Linked Data
ClinVar Variation Id:
189335
ClinVar RCV Id:
RCV000169751
dbSNP Id:
rs786204842
PubMed:
PMID:25683118
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96729723A>T , CM000667.2:g.96729723A>T | GRCh38 |
| NC_000005.9:g.96065427A>T , CM000667.1:g.96065427A>T | GRCh37 |
| NC_000005.8:g.96091183A>T | NCBI36 |
| NG_029490.1:g.72687A>T | |
| NG_029490.2:g.72687A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508608.6:c.436A>T | ENSP00000422677.2:p.Lys146Ter | |
| ENST00000510756.6:c.175A>T | ENSP00000422176.2:p.Lys59Ter | |
| ENST00000674587.1:c.175A>T | ENSP00000501797.1:p.Lys59Ter | |
| ENST00000674702.1:c.289A>T | ENSP00000502345.1:p.Lys97Ter | |
| ENST00000674984.1:c.481A>T | ENSP00000501713.1:p.Lys161Ter | |
| ENST00000675033.1:c.175A>T | ENSP00000501659.1:p.Lys59Ter | |
| ENST00000675107.1:n.517A>T | ||
| ENST00000675179.1:c.547A>T MANE Select | ENSP00000501872.1:p.Lys183Ter | |
| ENST00000675266.1:c.449A>T | ||
| ENST00000675267.1:c.*171A>T | ENSP00000502095.1:n.*171A>T | |
| ENST00000675479.1:c.199A>T | ENSP00000502244.1:p.Lys67Ter | |
| ENST00000675614.1:c.256A>T | ENSP00000502136.1:p.Lys86Ter | |
| ENST00000675663.1:c.436A>T | ENSP00000502449.1:p.Lys146Ter | |
| ENST00000675858.1:c.175A>T | ENSP00000501780.1:p.Lys59Ter | |
| ENST00000309190.9:c.232A>T | ENSP00000312523.5:p.Lys78Ter | |
| ENST00000338252.7:c.298A>T | ENSP00000343421.3:p.Lys100Ter | |
| ENST00000341926.7:c.298A>T | ENSP00000339914.3:p.Lys100Ter | |
| ENST00000348386.7:n.279A>T | ||
| ENST00000395812.6:c.424A>T | ENSP00000379157.2:p.Lys142Ter | |
| ENST00000395813.5:c.298A>T | ENSP00000379158.2:p.Lys100Ter | |
| ENST00000421689.6:c.490A>T | ENSP00000396558.2:p.Lys164Ter | |
| ENST00000504465.5:c.232A>T | ENSP00000425670.1:p.Lys78Ter | |
| ENST00000505143.5:c.532A>T | ENSP00000422957.1:p.Lys178Ter | |
| ENST00000508117.6:c.*71A>T | ENSP00000422466.1:n.*71A>T | |
| ENST00000508197.1:c.232A>T | ENSP00000422831.1:p.Lys78Ter | |
| ENST00000508608.5:c.436A>T | ENSP00000422677.1:p.Lys146Ter | |
| ENST00000508830.5:c.547A>T | ENSP00000425721.1:p.Lys183Ter | |
| ENST00000509903.5:c.232A>T | ENSP00000426946.1:p.Lys78Ter | |
| ENST00000510156.5:c.298A>T | ENSP00000422325.1:p.Lys100Ter | |
| ENST00000510756.5:c.481A>T | ENSP00000422176.1:p.Lys161Ter | |
| ENST00000511049.5:c.256A>T | ENSP00000421130.1:p.Lys86Ter | |
| ENST00000511097.6:c.481A>T | ENSP00000422951.2:p.Lys161Ter | |
| ENST00000511782.5:c.256A>T | ENSP00000423638.1:p.Lys86Ter | |
| ENST00000512620.5:c.429A>T | ||
| ENST00000513666.5:n.74-8126A>T | ||
| ENST00000514055.5:c.445A>T | ENSP00000421230.1:p.Lys149Ter | |
| ENST00000514845.5:c.379A>T | ENSP00000422612.1:p.Lys127Ter | |
| NM_001042440.3:c.424A>T | NP_001035905.1:p.Lys142Ter | |
| NM_001190442.1:c.298A>T | NP_001177371.1:p.Lys100Ter | |
| NM_001284212.1:c.175A>T | NP_001271141.1:p.Lys59Ter | |
| NM_001284213.1:c.232A>T | NP_001271142.1:p.Lys78Ter | |
| NM_173060.3:c.232A>T | NP_775083.1:p.Lys78Ter | |
| XM_006714696.2:c.547A>T | XP_006714759.1:p.Lys183Ter | |
| XM_006714697.2:c.547A>T | XP_006714760.1:p.Lys183Ter | |
| XM_006714698.2:c.547A>T | XP_006714761.1:p.Lys183Ter | |
| XM_006714699.2:c.502A>T | XP_006714762.1:p.Lys168Ter | |
| XM_006714700.2:c.490A>T | XP_006714763.1:p.Lys164Ter | |
| XM_006714701.2:c.481A>T | XP_006714764.1:p.Lys161Ter | |
| XM_006714702.2:c.445A>T | XP_006714765.1:p.Lys149Ter | |
| XM_006714703.2:c.481A>T | XP_006714766.1:p.Lys161Ter | |
| XM_006714704.2:c.436A>T | XP_006714767.1:p.Lys146Ter | |
| XM_006714705.2:c.424A>T | XP_006714768.1:p.Lys142Ter | |
| XM_006714706.2:c.379A>T | XP_006714769.1:p.Lys127Ter | |
| XM_006714707.2:c.298A>T | XP_006714770.1:p.Lys100Ter | |
| XM_006714708.2:c.298A>T | XP_006714771.1:p.Lys100Ter | |
| XM_006714709.2:c.241A>T | XP_006714772.1:p.Lys81Ter | |
| XM_006714710.2:c.232A>T | XP_006714773.1:p.Lys78Ter | |
| XM_006714711.2:c.175A>T | XP_006714774.1:p.Lys59Ter | |
| XM_006714712.2:c.175A>T | XP_006714775.1:p.Lys59Ter | |
| XM_011543654.1:c.547A>T | XP_011541956.1:p.Lys183Ter | |
| XM_011543655.1:c.547A>T | XP_011541957.1:p.Lys183Ter | |
| XM_011543656.1:c.481A>T | XP_011541958.1:p.Lys161Ter | |
| XM_011543657.1:c.436A>T | XP_011541959.1:p.Lys146Ter | |
| XM_011543658.1:c.232A>T | XP_011541960.1:p.Lys78Ter | |
| XM_011543659.1:c.547A>T | XP_011541961.1:p.Lys183Ter | |
| NM_001042440.4:c.424A>T | NP_001035905.1:p.Lys142Ter | |
| NM_001042441.2:c.490A>T | NP_001035906.1:p.Lys164Ter | |
| NM_001042442.2:c.481A>T | NP_001035907.1:p.Lys161Ter | |
| NM_001042443.2:c.298A>T | NP_001035908.1:p.Lys100Ter | |
| NM_001042444.2:c.175A>T | NP_001035909.1:p.Lys59Ter | |
| NM_001042445.2:c.232A>T | NP_001035910.1:p.Lys78Ter | |
| NM_001042446.2:c.175A>T | NP_001035911.1:p.Lys59Ter | |
| NM_001284212.3:c.175A>T | NP_001271141.1:p.Lys59Ter | |
| NM_001284213.3:c.232A>T | NP_001271142.1:p.Lys78Ter | |
| NM_001330626.1:c.490A>T | NP_001317555.1:p.Lys164Ter | |
| NM_001330627.1:c.424A>T | NP_001317556.1:p.Lys142Ter | |
| NM_001330628.1:c.379A>T | NP_001317557.1:p.Lys127Ter | |
| NM_001330629.1:c.502A>T | NP_001317558.1:p.Lys168Ter | |
| NM_001330630.1:c.175A>T | NP_001317559.1:p.Lys59Ter | |
| NM_001330631.1:c.298A>T | NP_001317560.1:p.Lys100Ter | |
| NM_001330632.1:c.232A>T | NP_001317561.1:p.Lys78Ter | |
| NM_001330633.1:c.241A>T | NP_001317562.1:p.Lys81Ter | |
| NM_001330634.1:c.241A>T | NP_001317563.1:p.Lys81Ter | |
| NM_001750.6:c.547A>T | NP_001741.4:p.Lys183Ter | |
| NM_173060.4:c.232A>T | NP_775083.1:p.Lys78Ter | |
| NM_001042440.5:c.424A>T | NP_001035905.1:p.Lys142Ter | |
| NM_001042441.3:c.490A>T | NP_001035906.1:p.Lys164Ter | |
| NM_001042442.3:c.481A>T | NP_001035907.1:p.Lys161Ter | |
| NM_001330626.2:c.490A>T | NP_001317555.1:p.Lys164Ter | |
| NM_001330627.2:c.424A>T | NP_001317556.1:p.Lys142Ter | |
| NM_001330628.2:c.379A>T | NP_001317557.1:p.Lys127Ter | |
| NM_001330629.2:c.502A>T | NP_001317558.1:p.Lys168Ter | |
| NM_001375317.1:c.436A>T | NP_001362246.1:p.Lys146Ter | |
| NM_001750.7:c.547A>T MANE Select | NP_001741.4:p.Lys183Ter | |
| NM_001042443.3:c.298A>T | NP_001035908.1:p.Lys100Ter | |
| NM_001042444.3:c.175A>T | NP_001035909.1:p.Lys59Ter | |
| NM_001042445.3:c.232A>T | NP_001035910.1:p.Lys78Ter | |
| NM_001042446.3:c.175A>T | NP_001035911.1:p.Lys59Ter | |
| NM_001190442.2:c.298A>T | NP_001177371.1:p.Lys100Ter | |
| NM_001284212.4:c.175A>T | NP_001271141.1:p.Lys59Ter | |
| NM_001284213.4:c.232A>T | NP_001271142.1:p.Lys78Ter | |
| NM_001330630.2:c.175A>T | NP_001317559.1:p.Lys59Ter | |
| NM_001330631.2:c.298A>T | NP_001317560.1:p.Lys100Ter | |
| NM_001330632.2:c.232A>T | NP_001317561.1:p.Lys78Ter | |
| NM_001330633.2:c.241A>T | NP_001317562.1:p.Lys81Ter | |
| NM_001330634.2:c.241A>T | NP_001317563.1:p.Lys81Ter | |
| NM_173060.5:c.232A>T | NP_775083.1:p.Lys78Ter |