Linked Data
dbSNP Id:
rs1688675639
COSMIC:
COSM3566096
MyVariant Identifiers:
chr2:g.128186093C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127428517C>T , CM000664.2:g.127428517C>T | GRCh38 |
| NC_000002.11:g.128186093C>T , CM000664.1:g.128186093C>T | GRCh37 |
| NC_000002.10:g.127902563C>T | NCBI36 |
| NG_016323.1:g.15098C>T , LRG_599:g.15098C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234071.8:c.957C>T MANE Select | ENSP00000234071.4:p.Cys319= | |
| ENST00000234071.7:c.957C>T | ENSP00000234071.3:p.Cys319= | |
| ENST00000402125.2:c.281C>T | ||
| ENST00000409048.1:c.1059C>T | ENSP00000386679.1:p.Cys353= | |
| NM_000312.3:c.957C>T , LRG_599t1:c.957C>T | NP_000303.1:p.Cys319= | |
| XM_005263715.3:c.1140C>T | XP_005263772.1:p.Cys380= | |
| XM_005263716.3:c.1122C>T | XP_005263773.1:p.Cys374= | |
| XM_005263717.3:c.1020C>T | XP_005263774.1:p.Cys340= | |
| XR_923313.1:n.1332-253G>A | ||
| XM_005263717.4:c.1020C>T | XP_005263774.1:p.Cys340= | |
| XM_017004505.1:c.1200C>T | XP_016859994.1:p.Cys400= | |
| XM_024453002.1:c.1302C>T | XP_024308770.1:p.Cys434= | |
| XM_024453003.1:c.1242C>T | XP_024308771.1:p.Cys414= | |
| XM_024453004.1:c.1140C>T | XP_024308772.1:p.Cys380= | |
| XM_024453005.1:c.1122C>T | XP_024308773.1:p.Cys374= | |
| XM_024453006.1:c.1059C>T | XP_024308774.1:p.Cys353= | |
| XR_001739705.1:n.3607-253G>A | ||
| XR_923313.2:n.4043-253G>A | ||
| NM_000312.4:c.957C>T MANE Select | NP_000303.1:p.Cys319= | |
| NM_001375602.1:c.1140C>T | NP_001362531.1:p.Cys380= | |
| NM_001375603.1:c.1122C>T | NP_001362532.1:p.Cys374= | |
| NM_001375604.1:c.1020C>T | NP_001362533.1:p.Cys340= | |
| NM_001375605.1:c.1059C>T | NP_001362534.1:p.Cys353= | |
| NM_001375606.1:c.1125C>T | NP_001362535.1:p.Cys375= | |
| NM_001375607.1:c.1143C>T | NP_001362536.1:p.Cys381= | |
| NM_001375608.1:c.900C>T | NP_001362537.1:p.Cys300= | |
| NM_001375609.1:c.933C>T | NP_001362538.1:p.Cys311= | |
| NM_001375610.1:c.951C>T | NP_001362539.1:p.Cys317= | |
| NM_001375611.1:c.957C>T | NP_001362540.1:p.Cys319= | |
| NM_001375613.1:c.957C>T | NP_001362542.1:p.Cys319= |