Linked Data
ClinVar Variation Id:
12521
ClinVar RCV Id:
RCV000013346
dbSNP Id:
rs121918711
PubMed:
PMID:15731757
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99146553A>G , CM000671.2:g.99146553A>G | GRCh38 |
| NC_000009.11:g.101908835A>G , CM000671.1:g.101908835A>G | GRCh37 |
| NC_000009.10:g.100948656A>G | NCBI36 |
| NG_007461.1:g.46424A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000547314.6:c.992A>G | ENSP00000449934.2:p.Asp331Gly | |
| ENST00000552573.7:c.1004A>G | ENSP00000447182.3:p.Asp335Gly | |
| ENST00000548365.6:c.*121A>G | ENSP00000448518.2:n.*121A>G | |
| ENST00000549021.6:c.761A>G | ENSP00000449028.2:p.Asp254Gly | |
| ENST00000698941.1:c.1004A>G | ENSP00000514048.1:p.Asp335Gly | |
| ENST00000698942.1:c.*995A>G | ENSP00000514049.1:n.*995A>G | |
| ENST00000374994.9:c.1199A>G MANE Select | ENSP00000364133.4:p.Asp400Gly | |
| ENST00000374990.6:c.968A>G | ENSP00000364129.2:p.Asp323Gly | |
| ENST00000374994.8:c.1199A>G | ENSP00000364133.4:p.Asp400Gly | |
| ENST00000549766.5:c.1143-1101A>G | ENSP00000446685.1:n.1143-1101A>G | |
| ENST00000550253.1:c.992A>G | ENSP00000450052.1:p.Asp331Gly | |
| ENST00000552516.5:c.1211A>G | ENSP00000447297.1:p.Asp404Gly | |
| NM_001130916.1:c.968A>G | NP_001124388.1:p.Asp323Gly | |
| NM_001130916.2:c.968A>G | NP_001124388.1:p.Asp323Gly | |
| NM_001306210.1:c.1211A>G | NP_001293139.1:p.Asp404Gly | |
| NM_004612.2:c.1199A>G | NP_004603.1:p.Asp400Gly | |
| NM_004612.3:c.1199A>G | NP_004603.1:p.Asp400Gly | |
| XM_011518948.1:c.1004A>G | XP_011517250.1:p.Asp335Gly | |
| XM_011518949.1:c.992A>G | XP_011517251.1:p.Asp331Gly | |
| XM_011518950.1:c.761A>G | XP_011517252.1:p.Asp254Gly | |
| XM_011518948.2:c.1004A>G | XP_011517250.1:p.Asp335Gly | |
| XM_011518949.2:c.992A>G | XP_011517251.1:p.Asp331Gly | |
| XM_011518950.2:c.761A>G | XP_011517252.1:p.Asp254Gly | |
| XM_017015063.1:c.1004A>G | XP_016870552.1:p.Asp335Gly | |
| XM_024447658.1:c.992A>G | XP_024303426.1:p.Asp331Gly | |
| NM_004612.4:c.1199A>G MANE Select | NP_004603.1:p.Asp400Gly | |
| NM_001130916.3:c.968A>G | NP_001124388.1:p.Asp323Gly | |
| NM_001306210.2:c.1211A>G | NP_001293139.1:p.Asp404Gly |