Linked Data
ClinVar Variation Id:
406954
dbSNP Id:
rs201809411
ExAC:
8:145736861 C / T
gnomAD v2:
8-145736861-C-T
gnomAD v4:
8-144511478-C-T
COSMIC:
COSM5548467
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144511478C>T , CM000670.2:g.144511478C>T | GRCh38 |
| NC_000008.10:g.145736861C>T , CM000670.1:g.145736861C>T | GRCh37 |
| NC_000008.9:g.145707669C>T | NCBI36 |
| NG_016430.1:g.11349G>A | |
| NG_016430.2:g.11349G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617875.6:c.3580G>A MANE Select | ENSP00000482313.2:p.Ala1194Thr | |
| ENST00000301323.7:c.597G>A | ||
| ENST00000529424.2:n.236G>A | ||
| ENST00000531875.2:c.835G>A | ENSP00000477910.1:p.Ala279Thr | |
| ENST00000617875.4:c.3580G>A | ENSP00000482313.1:p.Ala1194Thr | |
| ENST00000621189.4:c.2509G>A | ENSP00000483145.1:p.Ala837Thr | |
| NM_004260.3:c.3580G>A | NP_004251.3:p.Ala1194Thr | |
| XM_011517380.1:c.3655G>A | XP_011515682.1:p.Ala1219Thr | |
| XM_011517381.1:c.3559G>A | XP_011515683.1:p.Ala1187Thr | |
| XM_011517382.1:c.3463G>A | XP_011515684.1:p.Ala1155Thr | |
| XM_011517383.1:c.3457G>A | XP_011515685.1:p.Ala1153Thr | |
| XM_011517384.1:c.3382G>A | XP_011515686.1:p.Ala1128Thr | |
| XM_011517385.1:c.2518G>A | XP_011515687.1:p.Ala840Thr | |
| XR_928366.1:n.3539G>A | ||
| XR_928367.1:n.3635G>A | ||
| XR_928368.1:n.3528G>A | ||
| XM_011517384.3:c.3382G>A | XP_011515686.1:p.Ala1128Thr | |
| XM_017013991.2:c.3866G>A | XP_016869480.1:p.Cys1289Tyr | |
| XM_017013992.2:c.3791G>A | XP_016869481.1:p.Cys1264Tyr | |
| XM_017013993.2:c.3776G>A | XP_016869482.1:p.Cys1259Tyr | |
| XM_017013994.2:c.3770G>A | XP_016869483.1:p.Cys1257Tyr | |
| XM_017013995.2:c.3701G>A | XP_016869484.1:p.Cys1234Tyr | |
| XM_017013996.2:c.3745G>A | XP_016869485.1:p.Ala1249Thr | |
| XM_017013997.2:c.3668G>A | XP_016869486.1:p.Cys1223Tyr | |
| XM_017013998.1:c.3670G>A | XP_016869487.1:p.Ala1224Thr | |
| XM_017013999.2:c.3578G>A | XP_016869488.1:p.Cys1193Tyr | |
| XM_017014000.1:c.2729G>A | XP_016869489.1:p.Cys910Tyr | |
| XM_017014001.2:c.2639G>A | XP_016869490.1:p.Cys880Tyr | |
| XR_001745626.2:n.3625G>A | ||
| XR_001745627.2:n.3721G>A | ||
| XR_001745628.2:n.3612G>A | ||
| XR_001745629.2:n.3475G>A | ||
| XR_001745630.2:n.3277G>A | ||
| NM_004260.4:c.3580G>A MANE Select | NP_004251.4:p.Ala1194Thr |