Linked Data
dbSNP Id:
rs58429175
gnomAD v2:
5-96043374-T-A
gnomAD v3:
5-96707670-T-A
gnomAD v4:
5-96707670-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96707670T>A , CM000667.2:g.96707670T>A | GRCh38 |
| NC_000005.9:g.96043374T>A , CM000667.1:g.96043374T>A | GRCh37 |
| NC_000005.8:g.96069130T>A | NCBI36 |
| NG_029490.1:g.50634T>A | |
| NG_029490.2:g.50634T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508608.6:c.165+11763T>A | ENSP00000422677.2:n.165+11763T>A | |
| ENST00000510756.6:c.-40+4246T>A | ENSP00000422176.2:n.-40+4246T>A | |
| ENST00000674587.1:c.-40+4755T>A | ENSP00000501797.1:n.-40+4755T>A | |
| ENST00000674702.1:c.76-14969T>A | ENSP00000502345.1:n.76-14969T>A | |
| ENST00000674984.1:c.210+11763T>A | ENSP00000501713.1:n.210+11763T>A | |
| ENST00000675033.1:c.-164-4679T>A | ENSP00000501659.1:n.-164-4679T>A | |
| ENST00000675107.1:n.246+11763T>A | ||
| ENST00000675179.1:c.210+11763T>A MANE Select | ENSP00000501872.1:n.210+11763T>A | |
| ENST00000675266.1:c.72+11763T>A | ||
| ENST00000675267.1:c.166-4679T>A | ENSP00000502095.1:n.166-4679T>A | |
| ENST00000675479.1:c.-122+4298T>A | ENSP00000502244.1:n.-122+4298T>A | |
| ENST00000675614.1:c.-122+4755T>A | ENSP00000502136.1:n.-122+4755T>A | |
| ENST00000675663.1:c.165+11763T>A | ENSP00000502449.1:n.165+11763T>A | |
| ENST00000675858.1:c.-40+4755T>A | ENSP00000501780.1:n.-40+4755T>A | |
| ENST00000309190.9:c.-40+4755T>A | ENSP00000312523.5:n.-40+4755T>A | |
| ENST00000338252.7:c.-40+11763T>A | ENSP00000343421.3:n.-40+11763T>A | |
| ENST00000341926.7:c.-40+11763T>A | ENSP00000339914.3:n.-40+11763T>A | |
| ENST00000395812.6:c.210+11763T>A | ENSP00000379157.2:n.210+11763T>A | |
| ENST00000395813.5:c.-40+4755T>A | ENSP00000379158.2:n.-40+4755T>A | |
| ENST00000421689.6:c.210+11763T>A | ENSP00000396558.2:n.210+11763T>A | |
| ENST00000504221.5:n.110+4755T>A | ||
| ENST00000504465.5:c.-40+4755T>A | ENSP00000425670.1:n.-40+4755T>A | |
| ENST00000505143.5:c.195+11763T>A | ENSP00000422957.1:n.195+11763T>A | |
| ENST00000505402.1:n.32-6971T>A | ||
| ENST00000506811.5:c.165+11763T>A | ENSP00000427092.1:n.165+11763T>A | |
| ENST00000507487.5:n.230+11763T>A | ||
| ENST00000508117.6:c.-40+4755T>A | ENSP00000422466.1:n.-40+4755T>A | |
| ENST00000508197.1:c.-40+4755T>A | ENSP00000422831.1:n.-40+4755T>A | |
| ENST00000508608.5:c.165+11763T>A | ENSP00000422677.1:n.165+11763T>A | |
| ENST00000508830.5:c.210+11763T>A | ENSP00000425721.1:n.210+11763T>A | |
| ENST00000509903.5:c.-40+4755T>A | ENSP00000426946.1:n.-40+4755T>A | |
| ENST00000510156.5:c.-40+4755T>A | ENSP00000422325.1:n.-40+4755T>A | |
| ENST00000510756.5:c.210+11763T>A | ENSP00000422176.1:n.210+11763T>A | |
| ENST00000511049.5:c.-122+4755T>A | ENSP00000421130.1:n.-122+4755T>A | |
| ENST00000511097.6:c.210+11763T>A | ENSP00000422951.2:n.210+11763T>A | |
| ENST00000511782.5:c.-102+4755T>A | ENSP00000423638.1:n.-102+4755T>A | |
| ENST00000512620.5:c.158+11763T>A | ||
| ENST00000513666.5:n.73+4755T>A | ||
| ENST00000514055.5:c.165+11763T>A | ENSP00000421230.1:n.165+11763T>A | |
| ENST00000514845.5:c.165+11763T>A | ENSP00000422612.1:n.165+11763T>A | |
| NM_001042440.3:c.210+11763T>A | NP_001035905.1:n.210+11763T>A | |
| NM_001190442.1:c.-40+11763T>A | NP_001177371.1:n.-40+11763T>A | |
| NM_001284212.1:c.-40+4755T>A | NP_001271141.1:n.-40+4755T>A | |
| NM_001284213.1:c.-40+4755T>A | NP_001271142.1:n.-40+4755T>A | |
| NM_173060.3:c.-40+4755T>A | NP_775083.1:n.-40+4755T>A | |
| XM_006714696.2:c.210+11763T>A | XP_006714759.1:n.210+11763T>A | |
| XM_006714697.2:c.210+11763T>A | XP_006714760.1:n.210+11763T>A | |
| XM_006714698.2:c.210+11763T>A | XP_006714761.1:n.210+11763T>A | |
| XM_006714699.2:c.165+11763T>A | XP_006714762.1:n.165+11763T>A | |
| XM_006714700.2:c.210+11763T>A | XP_006714763.1:n.210+11763T>A | |
| XM_006714701.2:c.210+11763T>A | XP_006714764.1:n.210+11763T>A | |
| XM_006714702.2:c.165+11763T>A | XP_006714765.1:n.165+11763T>A | |
| XM_006714703.2:c.210+11763T>A | XP_006714766.1:n.210+11763T>A | |
| XM_006714704.2:c.165+11763T>A | XP_006714767.1:n.165+11763T>A | |
| XM_006714705.2:c.210+11763T>A | XP_006714768.1:n.210+11763T>A | |
| XM_006714706.2:c.165+11763T>A | XP_006714769.1:n.165+11763T>A | |
| XM_006714707.2:c.-40+4755T>A | XP_006714770.1:n.-40+4755T>A | |
| XM_006714708.2:c.-40+4755T>A | XP_006714771.1:n.-40+4755T>A | |
| XM_006714709.2:c.-40+4755T>A | XP_006714772.1:n.-40+4755T>A | |
| XM_006714710.2:c.-40+4755T>A | XP_006714773.1:n.-40+4755T>A | |
| XM_006714711.2:c.-40+4755T>A | XP_006714774.1:n.-40+4755T>A | |
| XM_006714712.2:c.-40+4755T>A | XP_006714775.1:n.-40+4755T>A | |
| XM_011543654.1:c.210+11763T>A | XP_011541956.1:n.210+11763T>A | |
| XM_011543655.1:c.210+11763T>A | XP_011541957.1:n.210+11763T>A | |
| XM_011543656.1:c.210+11763T>A | XP_011541958.1:n.210+11763T>A | |
| XM_011543657.1:c.165+11763T>A | XP_011541959.1:n.165+11763T>A | |
| XM_011543658.1:c.-40+4755T>A | XP_011541960.1:n.-40+4755T>A | |
| XM_011543659.1:c.210+11763T>A | XP_011541961.1:n.210+11763T>A | |
| NM_001042440.4:c.210+11763T>A | NP_001035905.1:n.210+11763T>A | |
| NM_001042441.2:c.210+11763T>A | NP_001035906.1:n.210+11763T>A | |
| NM_001042442.2:c.210+11763T>A | NP_001035907.1:n.210+11763T>A | |
| NM_001042443.2:c.-40+4755T>A | NP_001035908.1:n.-40+4755T>A | |
| NM_001042444.2:c.-40+4755T>A | NP_001035909.1:n.-40+4755T>A | |
| NM_001042445.2:c.-40+4755T>A | NP_001035910.1:n.-40+4755T>A | |
| NM_001042446.2:c.-40+4755T>A | NP_001035911.1:n.-40+4755T>A | |
| NM_001284212.3:c.-40+4755T>A | NP_001271141.1:n.-40+4755T>A | |
| NM_001284213.3:c.-40+4755T>A | NP_001271142.1:n.-40+4755T>A | |
| NM_001330626.1:c.210+11763T>A | NP_001317555.1:n.210+11763T>A | |
| NM_001330627.1:c.210+11763T>A | NP_001317556.1:n.210+11763T>A | |
| NM_001330628.1:c.165+11763T>A | NP_001317557.1:n.165+11763T>A | |
| NM_001330629.1:c.165+11763T>A | NP_001317558.1:n.165+11763T>A | |
| NM_001330630.1:c.-40+4755T>A | NP_001317559.1:n.-40+4755T>A | |
| NM_001330631.1:c.-40+4755T>A | NP_001317560.1:n.-40+4755T>A | |
| NM_001330632.1:c.-40+4755T>A | NP_001317561.1:n.-40+4755T>A | |
| NM_001330633.1:c.-40+4755T>A | NP_001317562.1:n.-40+4755T>A | |
| NM_001330634.1:c.-40+4755T>A | NP_001317563.1:n.-40+4755T>A | |
| NM_001750.6:c.210+11763T>A | NP_001741.4:n.210+11763T>A | |
| NM_173060.4:c.-40+4755T>A | NP_775083.1:n.-40+4755T>A | |
| NM_001042440.5:c.210+11763T>A | NP_001035905.1:n.210+11763T>A | |
| NM_001042441.3:c.210+11763T>A | NP_001035906.1:n.210+11763T>A | |
| NM_001042442.3:c.210+11763T>A | NP_001035907.1:n.210+11763T>A | |
| NM_001330626.2:c.210+11763T>A | NP_001317555.1:n.210+11763T>A | |
| NM_001330627.2:c.210+11763T>A | NP_001317556.1:n.210+11763T>A | |
| NM_001330628.2:c.165+11763T>A | NP_001317557.1:n.165+11763T>A | |
| NM_001330629.2:c.165+11763T>A | NP_001317558.1:n.165+11763T>A | |
| NM_001375317.1:c.165+11763T>A | NP_001362246.1:n.165+11763T>A | |
| NM_001750.7:c.210+11763T>A MANE Select | NP_001741.4:n.210+11763T>A | |
| NM_001042443.3:c.-40+4755T>A | NP_001035908.1:n.-40+4755T>A | |
| NM_001042444.3:c.-40+4755T>A | NP_001035909.1:n.-40+4755T>A | |
| NM_001042445.3:c.-40+4755T>A | NP_001035910.1:n.-40+4755T>A | |
| NM_001042446.3:c.-40+4755T>A | NP_001035911.1:n.-40+4755T>A | |
| NM_001190442.2:c.-40+11763T>A | NP_001177371.1:n.-40+11763T>A | |
| NM_001284212.4:c.-40+4755T>A | NP_001271141.1:n.-40+4755T>A | |
| NM_001284213.4:c.-40+4755T>A | NP_001271142.1:n.-40+4755T>A | |
| NM_001330630.2:c.-40+4755T>A | NP_001317559.1:n.-40+4755T>A | |
| NM_001330631.2:c.-40+4755T>A | NP_001317560.1:n.-40+4755T>A | |
| NM_001330632.2:c.-40+4755T>A | NP_001317561.1:n.-40+4755T>A | |
| NM_001330633.2:c.-40+4755T>A | NP_001317562.1:n.-40+4755T>A | |
| NM_001330634.2:c.-40+4755T>A | NP_001317563.1:n.-40+4755T>A | |
| NM_173060.5:c.-40+4755T>A | NP_775083.1:n.-40+4755T>A |