Linked Data
ClinVar Variation Id:
698077
dbSNP Id:
rs145800354
ExAC:
2:128186247 A / G
gnomAD v2:
2-128186247-A-G
gnomAD v3:
2-127428671-A-G
gnomAD v4:
2-127428671-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127428671A>G , CM000664.2:g.127428671A>G | GRCh38 |
| NC_000002.11:g.128186247A>G , CM000664.1:g.128186247A>G | GRCh37 |
| NC_000002.10:g.127902717A>G | NCBI36 |
| NG_016323.1:g.15252A>G , LRG_599:g.15252A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234071.8:c.1111A>G MANE Select | ENSP00000234071.4:p.Asn371Asp | |
| ENST00000234071.7:c.1111A>G | ENSP00000234071.3:p.Asn371Asp | |
| ENST00000402125.2:c.435A>G | ||
| ENST00000409048.1:c.1213A>G | ENSP00000386679.1:p.Asn405Asp | |
| NM_000312.3:c.1111A>G , LRG_599t1:c.1111A>G | NP_000303.1:p.Asn371Asp | |
| XM_005263715.3:c.1294A>G | XP_005263772.1:p.Asn432Asp | |
| XM_005263716.3:c.1276A>G | XP_005263773.1:p.Asn426Asp | |
| XM_005263717.3:c.1174A>G | XP_005263774.1:p.Asn392Asp | |
| XR_923313.1:n.1332-407T>C | ||
| XM_005263717.4:c.1174A>G | XP_005263774.1:p.Asn392Asp | |
| XM_017004505.1:c.1354A>G | XP_016859994.1:p.Asn452Asp | |
| XM_024453002.1:c.1456A>G | XP_024308770.1:p.Asn486Asp | |
| XM_024453003.1:c.1396A>G | XP_024308771.1:p.Asn466Asp | |
| XM_024453004.1:c.1294A>G | XP_024308772.1:p.Asn432Asp | |
| XM_024453005.1:c.1276A>G | XP_024308773.1:p.Asn426Asp | |
| XM_024453006.1:c.1213A>G | XP_024308774.1:p.Asn405Asp | |
| XR_001739705.1:n.3607-407T>C | ||
| XR_923313.2:n.4043-407T>C | ||
| NM_000312.4:c.1111A>G MANE Select | NP_000303.1:p.Asn371Asp | |
| NM_001375602.1:c.1294A>G | NP_001362531.1:p.Asn432Asp | |
| NM_001375603.1:c.1276A>G | NP_001362532.1:p.Asn426Asp | |
| NM_001375604.1:c.1174A>G | NP_001362533.1:p.Asn392Asp | |
| NM_001375605.1:c.1213A>G | NP_001362534.1:p.Asn405Asp | |
| NM_001375606.1:c.1279A>G | NP_001362535.1:p.Asn427Asp | |
| NM_001375607.1:c.1297A>G | NP_001362536.1:p.Asn433Asp | |
| NM_001375608.1:c.1054A>G | NP_001362537.1:p.Asn352Asp | |
| NM_001375609.1:c.1087A>G | NP_001362538.1:p.Asn363Asp | |
| NM_001375610.1:c.1105A>G | NP_001362539.1:p.Asn369Asp | |
| NM_001375611.1:c.1111A>G | NP_001362540.1:p.Asn371Asp | |
| NM_001375613.1:c.1111A>G | NP_001362542.1:p.Asn371Asp |