Linked Data
dbSNP Id:
rs751406743
ExAC:
2:128186234 C / T
gnomAD v2:
2-128186234-C-T
gnomAD v3:
2-127428658-C-T
gnomAD v4:
2-127428658-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127428658C>T , CM000664.2:g.127428658C>T | GRCh38 |
| NC_000002.11:g.128186234C>T , CM000664.1:g.128186234C>T | GRCh37 |
| NC_000002.10:g.127902704C>T | NCBI36 |
| NG_016323.1:g.15239C>T , LRG_599:g.15239C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234071.8:c.1098C>T MANE Select | ENSP00000234071.4:p.Pro366= | |
| ENST00000234071.7:c.1098C>T | ENSP00000234071.3:p.Pro366= | |
| ENST00000402125.2:c.422C>T | ||
| ENST00000409048.1:c.1200C>T | ENSP00000386679.1:p.Pro400= | |
| NM_000312.3:c.1098C>T , LRG_599t1:c.1098C>T | NP_000303.1:p.Pro366= | |
| XM_005263715.3:c.1281C>T | XP_005263772.1:p.Pro427= | |
| XM_005263716.3:c.1263C>T | XP_005263773.1:p.Pro421= | |
| XM_005263717.3:c.1161C>T | XP_005263774.1:p.Pro387= | |
| XR_923313.1:n.1332-394G>A | ||
| XM_005263717.4:c.1161C>T | XP_005263774.1:p.Pro387= | |
| XM_017004505.1:c.1341C>T | XP_016859994.1:p.Pro447= | |
| XM_024453002.1:c.1443C>T | XP_024308770.1:p.Pro481= | |
| XM_024453003.1:c.1383C>T | XP_024308771.1:p.Pro461= | |
| XM_024453004.1:c.1281C>T | XP_024308772.1:p.Pro427= | |
| XM_024453005.1:c.1263C>T | XP_024308773.1:p.Pro421= | |
| XM_024453006.1:c.1200C>T | XP_024308774.1:p.Pro400= | |
| XR_001739705.1:n.3607-394G>A | ||
| XR_923313.2:n.4043-394G>A | ||
| NM_000312.4:c.1098C>T MANE Select | NP_000303.1:p.Pro366= | |
| NM_001375602.1:c.1281C>T | NP_001362531.1:p.Pro427= | |
| NM_001375603.1:c.1263C>T | NP_001362532.1:p.Pro421= | |
| NM_001375604.1:c.1161C>T | NP_001362533.1:p.Pro387= | |
| NM_001375605.1:c.1200C>T | NP_001362534.1:p.Pro400= | |
| NM_001375606.1:c.1266C>T | NP_001362535.1:p.Pro422= | |
| NM_001375607.1:c.1284C>T | NP_001362536.1:p.Pro428= | |
| NM_001375608.1:c.1041C>T | NP_001362537.1:p.Pro347= | |
| NM_001375609.1:c.1074C>T | NP_001362538.1:p.Pro358= | |
| NM_001375610.1:c.1092C>T | NP_001362539.1:p.Pro364= | |
| NM_001375611.1:c.1098C>T | NP_001362540.1:p.Pro366= | |
| NM_001375613.1:c.1098C>T | NP_001362542.1:p.Pro366= |