Linked Data
dbSNP Id:
rs146028808
ExAC:
2:128186330 C / T
gnomAD v2:
2-128186330-C-T
gnomAD v3:
2-127428754-C-T
gnomAD v4:
2-127428754-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127428754C>T , CM000664.2:g.127428754C>T | GRCh38 |
| NC_000002.11:g.128186330C>T , CM000664.1:g.128186330C>T | GRCh37 |
| NC_000002.10:g.127902800C>T | NCBI36 |
| NG_016323.1:g.15335C>T , LRG_599:g.15335C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234071.8:c.1194C>T MANE Select | ENSP00000234071.4:p.Cys398= | |
| ENST00000234071.7:c.1194C>T | ENSP00000234071.3:p.Cys398= | |
| ENST00000402125.2:c.518C>T | ||
| ENST00000409048.1:c.1296C>T | ENSP00000386679.1:p.Cys432= | |
| NM_000312.3:c.1194C>T , LRG_599t1:c.1194C>T | NP_000303.1:p.Cys398= | |
| XM_005263715.3:c.1377C>T | XP_005263772.1:p.Cys459= | |
| XM_005263716.3:c.1359C>T | XP_005263773.1:p.Cys453= | |
| XM_005263717.3:c.1257C>T | XP_005263774.1:p.Cys419= | |
| XR_923313.1:n.1332-490G>A | ||
| XM_005263717.4:c.1257C>T | XP_005263774.1:p.Cys419= | |
| XM_017004505.1:c.1437C>T | XP_016859994.1:p.Cys479= | |
| XM_024453002.1:c.1539C>T | XP_024308770.1:p.Cys513= | |
| XM_024453003.1:c.1479C>T | XP_024308771.1:p.Cys493= | |
| XM_024453004.1:c.1377C>T | XP_024308772.1:p.Cys459= | |
| XM_024453005.1:c.1359C>T | XP_024308773.1:p.Cys453= | |
| XM_024453006.1:c.1296C>T | XP_024308774.1:p.Cys432= | |
| XR_001739705.1:n.3607-490G>A | ||
| XR_923313.2:n.4043-490G>A | ||
| NM_000312.4:c.1194C>T MANE Select | NP_000303.1:p.Cys398= | |
| NM_001375602.1:c.1377C>T | NP_001362531.1:p.Cys459= | |
| NM_001375603.1:c.1359C>T | NP_001362532.1:p.Cys453= | |
| NM_001375604.1:c.1257C>T | NP_001362533.1:p.Cys419= | |
| NM_001375605.1:c.1296C>T | NP_001362534.1:p.Cys432= | |
| NM_001375606.1:c.1362C>T | NP_001362535.1:p.Cys454= | |
| NM_001375607.1:c.1380C>T | NP_001362536.1:p.Cys460= | |
| NM_001375608.1:c.1137C>T | NP_001362537.1:p.Cys379= | |
| NM_001375609.1:c.1170C>T | NP_001362538.1:p.Cys390= | |
| NM_001375610.1:c.1188C>T | NP_001362539.1:p.Cys396= | |
| NM_001375611.1:c.1194C>T | NP_001362540.1:p.Cys398= | |
| NM_001375613.1:c.1194C>T | NP_001362542.1:p.Cys398= |