Linked Data
ClinVar Variation Id:
364103
dbSNP Id:
rs868
gnomAD v2:
9-101911656-A-G
gnomAD v3:
9-99149374-A-G
gnomAD v4:
9-99149374-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99149374A>G , CM000671.2:g.99149374A>G | GRCh38 |
| NC_000009.11:g.101911656A>G , CM000671.1:g.101911656A>G | GRCh37 |
| NC_000009.10:g.100951477A>G | NCBI36 |
| NG_007461.1:g.49245A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000547314.6:c.*69A>G | ENSP00000449934.2:n.*69A>G | |
| ENST00000552573.7:c.*69A>G | ENSP00000447182.3:n.*69A>G | |
| ENST00000548365.6:c.*503A>G | ENSP00000448518.2:n.*503A>G | |
| ENST00000549021.6:c.*69A>G | ENSP00000449028.2:n.*69A>G | |
| ENST00000698941.1:c.*69A>G | ENSP00000514048.1:n.*69A>G | |
| ENST00000698942.1:c.*1377A>G | ENSP00000514049.1:n.*1377A>G | |
| ENST00000698943.1:n.1148A>G | ||
| ENST00000374994.9:c.*69A>G MANE Select | ENSP00000364133.4:n.*69A>G | |
| ENST00000374990.6:c.*69A>G | ENSP00000364129.2:n.*69A>G | |
| ENST00000374994.8:c.*69A>G | ENSP00000364133.4:n.*69A>G | |
| ENST00000549766.5:c.*316A>G | ENSP00000446685.1:n.*316A>G | |
| ENST00000552516.5:c.*69A>G | ENSP00000447297.1:n.*69A>G | |
| NM_001130916.1:c.*69A>G | NP_001124388.1:n.*69A>G | |
| NM_001130916.2:c.*69A>G | NP_001124388.1:n.*69A>G | |
| NM_001306210.1:c.*69A>G | NP_001293139.1:n.*69A>G | |
| NM_004612.2:c.*69A>G | NP_004603.1:n.*69A>G | |
| NM_004612.3:c.*69A>G | NP_004603.1:n.*69A>G | |
| XM_011518948.1:c.*69A>G | XP_011517250.1:n.*69A>G | |
| XM_011518949.1:c.*69A>G | XP_011517251.1:n.*69A>G | |
| XM_011518950.1:c.*69A>G | XP_011517252.1:n.*69A>G | |
| XM_011518948.2:c.*69A>G | XP_011517250.1:n.*69A>G | |
| XM_011518949.2:c.*69A>G | XP_011517251.1:n.*69A>G | |
| XM_011518950.2:c.*69A>G | XP_011517252.1:n.*69A>G | |
| XM_017015063.1:c.*69A>G | XP_016870552.1:n.*69A>G | |
| XM_024447658.1:c.*69A>G | XP_024303426.1:n.*69A>G | |
| NM_004612.4:c.*69A>G MANE Select | NP_004603.1:n.*69A>G | |
| NM_001130916.3:c.*69A>G | NP_001124388.1:n.*69A>G | |
| NM_001306210.2:c.*69A>G | NP_001293139.1:n.*69A>G |