Linked Data
dbSNP Id:
rs775467256
ExAC:
2:128186390 C / T
gnomAD v2:
2-128186390-C-T
gnomAD v3:
2-127428814-C-T
gnomAD v4:
2-127428814-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127428814C>T , CM000664.2:g.127428814C>T | GRCh38 |
| NC_000002.11:g.128186390C>T , CM000664.1:g.128186390C>T | GRCh37 |
| NC_000002.10:g.127902860C>T | NCBI36 |
| NG_016323.1:g.15395C>T , LRG_599:g.15395C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234071.8:c.1254C>T MANE Select | ENSP00000234071.4:p.Gly418= | |
| ENST00000234071.7:c.1254C>T | ENSP00000234071.3:p.Gly418= | |
| ENST00000402125.2:c.578C>T | ||
| ENST00000409048.1:c.1356C>T | ENSP00000386679.1:p.Gly452= | |
| NM_000312.3:c.1254C>T , LRG_599t1:c.1254C>T | NP_000303.1:p.Gly418= | |
| XM_005263715.3:c.1437C>T | XP_005263772.1:p.Gly479= | |
| XM_005263716.3:c.1419C>T | XP_005263773.1:p.Gly473= | |
| XM_005263717.3:c.1317C>T | XP_005263774.1:p.Gly439= | |
| XR_923313.1:n.1332-550G>A | ||
| XM_005263717.4:c.1317C>T | XP_005263774.1:p.Gly439= | |
| XM_017004505.1:c.1497C>T | XP_016859994.1:p.Gly499= | |
| XM_024453002.1:c.1599C>T | XP_024308770.1:p.Gly533= | |
| XM_024453003.1:c.1539C>T | XP_024308771.1:p.Gly513= | |
| XM_024453004.1:c.1437C>T | XP_024308772.1:p.Gly479= | |
| XM_024453005.1:c.1419C>T | XP_024308773.1:p.Gly473= | |
| XM_024453006.1:c.1356C>T | XP_024308774.1:p.Gly452= | |
| XR_001739705.1:n.3607-550G>A | ||
| XR_923313.2:n.4043-550G>A | ||
| NM_000312.4:c.1254C>T MANE Select | NP_000303.1:p.Gly418= | |
| NM_001375602.1:c.1437C>T | NP_001362531.1:p.Gly479= | |
| NM_001375603.1:c.1419C>T | NP_001362532.1:p.Gly473= | |
| NM_001375604.1:c.1317C>T | NP_001362533.1:p.Gly439= | |
| NM_001375605.1:c.1356C>T | NP_001362534.1:p.Gly452= | |
| NM_001375606.1:c.1422C>T | NP_001362535.1:p.Gly474= | |
| NM_001375607.1:c.1440C>T | NP_001362536.1:p.Gly480= | |
| NM_001375608.1:c.1197C>T | NP_001362537.1:p.Gly399= | |
| NM_001375609.1:c.1230C>T | NP_001362538.1:p.Gly410= | |
| NM_001375610.1:c.1248C>T | NP_001362539.1:p.Gly416= | |
| NM_001375611.1:c.1254C>T | NP_001362540.1:p.Gly418= | |
| NM_001375613.1:c.1254C>T | NP_001362542.1:p.Gly418= |