Linked Data
dbSNP Id:
rs778455687
ExAC:
2:128186102 C / T
gnomAD v2:
2-128186102-C-T
gnomAD v3:
2-127428526-C-T
gnomAD v4:
2-127428526-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127428526C>T , CM000664.2:g.127428526C>T | GRCh38 |
| NC_000002.11:g.128186102C>T , CM000664.1:g.128186102C>T | GRCh37 |
| NC_000002.10:g.127902572C>T | NCBI36 |
| NG_016323.1:g.15107C>T , LRG_599:g.15107C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234071.8:c.966C>T MANE Select | ENSP00000234071.4:p.Asp322= | |
| ENST00000234071.7:c.966C>T | ENSP00000234071.3:p.Asp322= | |
| ENST00000402125.2:c.290C>T | ||
| ENST00000409048.1:c.1068C>T | ENSP00000386679.1:p.Asp356= | |
| NM_000312.3:c.966C>T , LRG_599t1:c.966C>T | NP_000303.1:p.Asp322= | |
| XM_005263715.3:c.1149C>T | XP_005263772.1:p.Asp383= | |
| XM_005263716.3:c.1131C>T | XP_005263773.1:p.Asp377= | |
| XM_005263717.3:c.1029C>T | XP_005263774.1:p.Asp343= | |
| XR_923313.1:n.1332-262G>A | ||
| XM_005263717.4:c.1029C>T | XP_005263774.1:p.Asp343= | |
| XM_017004505.1:c.1209C>T | XP_016859994.1:p.Asp403= | |
| XM_024453002.1:c.1311C>T | XP_024308770.1:p.Asp437= | |
| XM_024453003.1:c.1251C>T | XP_024308771.1:p.Asp417= | |
| XM_024453004.1:c.1149C>T | XP_024308772.1:p.Asp383= | |
| XM_024453005.1:c.1131C>T | XP_024308773.1:p.Asp377= | |
| XM_024453006.1:c.1068C>T | XP_024308774.1:p.Asp356= | |
| XR_001739705.1:n.3607-262G>A | ||
| XR_923313.2:n.4043-262G>A | ||
| NM_000312.4:c.966C>T MANE Select | NP_000303.1:p.Asp322= | |
| NM_001375602.1:c.1149C>T | NP_001362531.1:p.Asp383= | |
| NM_001375603.1:c.1131C>T | NP_001362532.1:p.Asp377= | |
| NM_001375604.1:c.1029C>T | NP_001362533.1:p.Asp343= | |
| NM_001375605.1:c.1068C>T | NP_001362534.1:p.Asp356= | |
| NM_001375606.1:c.1134C>T | NP_001362535.1:p.Asp378= | |
| NM_001375607.1:c.1152C>T | NP_001362536.1:p.Asp384= | |
| NM_001375608.1:c.909C>T | NP_001362537.1:p.Asp303= | |
| NM_001375609.1:c.942C>T | NP_001362538.1:p.Asp314= | |
| NM_001375610.1:c.960C>T | NP_001362539.1:p.Asp320= | |
| NM_001375611.1:c.966C>T | NP_001362540.1:p.Asp322= | |
| NM_001375613.1:c.966C>T | NP_001362542.1:p.Asp322= |