Linked Data
ClinVar Variation Id:
217575
dbSNP Id:
rs749523755
ExAC:
5:37157912 A / T
gnomAD v2:
5-37157912-A-T
gnomAD v3:
5-37157810-A-T
gnomAD v4:
5-37157810-A-T
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37157810A>T , CM000667.2:g.37157810A>T | GRCh38 |
| NC_000005.9:g.37157912A>T , CM000667.1:g.37157912A>T | GRCh37 |
| NC_000005.8:g.37193669A>T | NCBI36 |
| NG_032772.1:g.96619T>A | |
| NG_032772.2:g.96619T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000510830.2:n.870T>A | ||
| ENST00000651892.2:c.7871T>A MANE Select | ENSP00000498265.2:p.Leu2624Ter | |
| ENST00000425232.6:c.7817T>A | ENSP00000389014.2:p.Leu2606Ter | |
| ENST00000508244.5:c.7817T>A | ENSP00000421690.1:p.Leu2606Ter | |
| ENST00000509849.5:c.4883T>A | ENSP00000426337.1:p.Leu1628Ter | |
| ENST00000509957.5:n.113T>A | ||
| ENST00000510830.1:n.317T>A | ||
| ENST00000511210.5:n.162T>A | ||
| ENST00000511824.2:c.943T>A | ||
| ENST00000514429.5:c.5015T>A | ENSP00000424223.1:p.Leu1672Ter | |
| ENST00000515380.1:n.123T>A | ||
| NM_023073.3:c.7817T>A | NP_075561.3:p.Leu2606Ter | |
| XM_005248345.2:c.7871T>A | XP_005248402.1:p.Leu2624Ter | |
| XM_005248346.2:c.7868T>A | XP_005248403.1:p.Leu2623Ter | |
| XM_005248347.2:c.7868T>A | XP_005248404.1:p.Leu2623Ter | |
| XM_005248349.2:c.7868T>A | XP_005248406.1:p.Leu2623Ter | |
| XM_005248350.2:c.7742T>A | XP_005248407.1:p.Leu2581Ter | |
| XM_005248353.3:c.4514T>A | XP_005248410.1:p.Leu1505Ter | |
| XM_006714489.2:c.7871T>A | XP_006714552.1:p.Leu2624Ter | |
| XM_006714491.2:c.2444T>A | XP_006714554.1:p.Leu815Ter | |
| XM_011514085.1:c.7871T>A | XP_011512387.1:p.Leu2624Ter | |
| XM_011514086.1:c.7871T>A | XP_011512388.1:p.Leu2624Ter | |
| XM_011514087.1:c.7817T>A | XP_011512389.1:p.Leu2606Ter | |
| XM_011514088.1:c.7871T>A | XP_011512390.1:p.Leu2624Ter | |
| XM_011514089.1:c.7871T>A | XP_011512391.1:p.Leu2624Ter | |
| XM_011514090.1:c.7553T>A | XP_011512392.1:p.Leu2518Ter | |
| XM_011514091.1:c.7199T>A | XP_011512393.1:p.Leu2400Ter | |
| XM_011514092.1:c.7871T>A | XP_011512394.1:p.Leu2624Ter | |
| XM_011514094.1:c.5096T>A | XP_011512396.1:p.Leu1699Ter | |
| XR_427661.2:n.8046T>A | ||
| XR_925644.1:n.8046T>A | ||
| XM_005248345.4:c.7871T>A | XP_005248402.1:p.Leu2624Ter | |
| XM_005248346.4:c.7868T>A | XP_005248403.1:p.Leu2623Ter | |
| XM_005248347.4:c.7868T>A | XP_005248404.1:p.Leu2623Ter | |
| XM_005248349.4:c.7868T>A | XP_005248406.1:p.Leu2623Ter | |
| XM_005248350.4:c.7742T>A | XP_005248407.1:p.Leu2581Ter | |
| XM_006714491.3:c.2444T>A | XP_006714554.1:p.Leu815Ter | |
| XM_011514085.3:c.7871T>A | XP_011512387.1:p.Leu2624Ter | |
| XM_011514086.3:c.7871T>A | XP_011512388.1:p.Leu2624Ter | |
| XM_011514087.2:c.7817T>A | XP_011512389.1:p.Leu2606Ter | |
| XM_011514088.2:c.7871T>A | XP_011512390.1:p.Leu2624Ter | |
| XM_011514089.2:c.7871T>A | XP_011512391.1:p.Leu2624Ter | |
| XM_011514090.3:c.7553T>A | XP_011512392.1:p.Leu2518Ter | |
| XM_011514092.2:c.7871T>A | XP_011512394.1:p.Leu2624Ter | |
| XM_011514094.2:c.5096T>A | XP_011512396.1:p.Leu1699Ter | |
| XM_017009760.1:c.7682T>A | XP_016865249.1:p.Leu2561Ter | |
| XM_017009761.2:c.7682T>A | XP_016865250.1:p.Leu2561Ter | |
| XM_017009763.1:c.6878T>A | XP_016865252.1:p.Leu2293Ter | |
| XM_017009765.1:c.6683T>A | XP_016865254.1:p.Leu2228Ter | |
| XM_017009766.1:c.4514T>A | XP_016865255.1:p.Leu1505Ter | |
| XM_024446183.1:c.7682T>A | XP_024301951.1:p.Leu2561Ter | |
| XM_024446184.1:c.7553T>A | XP_024301952.1:p.Leu2518Ter | |
| XM_024446185.1:c.7199T>A | XP_024301953.1:p.Leu2400Ter | |
| XM_024446186.1:c.6878T>A | XP_024301954.1:p.Leu2293Ter | |
| XR_001742208.1:n.8040T>A | ||
| XR_002956171.1:n.7986T>A | ||
| XR_925644.2:n.8095T>A | ||
| NM_001384732.1:c.7871T>A MANE Select | NP_001371661.1:p.Leu2624Ter | |
| NM_023073.4:c.7817T>A | NP_075561.3:p.Leu2606Ter |