Linked Data
ClinVar Variation Id:
331112
dbSNP Id:
rs148855579
ExAC:
2:128186297 T / C
gnomAD v2:
2-128186297-T-C
gnomAD v3:
2-127428721-T-C
gnomAD v4:
2-127428721-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127428721T>C , CM000664.2:g.127428721T>C | GRCh38 |
| NC_000002.11:g.128186297T>C , CM000664.1:g.128186297T>C | GRCh37 |
| NC_000002.10:g.127902767T>C | NCBI36 |
| NG_016323.1:g.15302T>C , LRG_599:g.15302T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000234071.8:c.1161T>C MANE Select | ENSP00000234071.4:p.Cys387= | |
| ENST00000234071.7:c.1161T>C | ENSP00000234071.3:p.Cys387= | |
| ENST00000402125.2:c.485T>C | ||
| ENST00000409048.1:c.1263T>C | ENSP00000386679.1:p.Cys421= | |
| NM_000312.3:c.1161T>C , LRG_599t1:c.1161T>C | NP_000303.1:p.Cys387= | |
| XM_005263715.3:c.1344T>C | XP_005263772.1:p.Cys448= | |
| XM_005263716.3:c.1326T>C | XP_005263773.1:p.Cys442= | |
| XM_005263717.3:c.1224T>C | XP_005263774.1:p.Cys408= | |
| XR_923313.1:n.1332-457A>G | ||
| XM_005263717.4:c.1224T>C | XP_005263774.1:p.Cys408= | |
| XM_017004505.1:c.1404T>C | XP_016859994.1:p.Cys468= | |
| XM_024453002.1:c.1506T>C | XP_024308770.1:p.Cys502= | |
| XM_024453003.1:c.1446T>C | XP_024308771.1:p.Cys482= | |
| XM_024453004.1:c.1344T>C | XP_024308772.1:p.Cys448= | |
| XM_024453005.1:c.1326T>C | XP_024308773.1:p.Cys442= | |
| XM_024453006.1:c.1263T>C | XP_024308774.1:p.Cys421= | |
| XR_001739705.1:n.3607-457A>G | ||
| XR_923313.2:n.4043-457A>G | ||
| NM_000312.4:c.1161T>C MANE Select | NP_000303.1:p.Cys387= | |
| NM_001375602.1:c.1344T>C | NP_001362531.1:p.Cys448= | |
| NM_001375603.1:c.1326T>C | NP_001362532.1:p.Cys442= | |
| NM_001375604.1:c.1224T>C | NP_001362533.1:p.Cys408= | |
| NM_001375605.1:c.1263T>C | NP_001362534.1:p.Cys421= | |
| NM_001375606.1:c.1329T>C | NP_001362535.1:p.Cys443= | |
| NM_001375607.1:c.1347T>C | NP_001362536.1:p.Cys449= | |
| NM_001375608.1:c.1104T>C | NP_001362537.1:p.Cys368= | |
| NM_001375609.1:c.1137T>C | NP_001362538.1:p.Cys379= | |
| NM_001375610.1:c.1155T>C | NP_001362539.1:p.Cys385= | |
| NM_001375611.1:c.1161T>C | NP_001362540.1:p.Cys387= | |
| NM_001375613.1:c.1161T>C | NP_001362542.1:p.Cys387= |