Linked Data
ClinVar Variation Id:
364675
dbSNP Id:
rs779279060
gnomAD v2:
9-117164847-T-C
gnomAD v3:
9-114402567-T-C
gnomAD v4:
9-114402567-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114402567T>C , CM000671.2:g.114402567T>C | GRCh38 |
| NC_000009.11:g.117164847T>C , CM000671.1:g.117164847T>C | GRCh37 |
| NC_000009.10:g.116204668T>C | NCBI36 |
| NG_016700.1:g.107890A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699485.1:c.1255A>G | ENSP00000514396.1:n.1255A>G | |
| ENST00000362057.4:c.*187A>G MANE Select | ENSP00000354623.3:n.*187A>G | |
| ENST00000674036.8:c.1884A>G | ||
| ENST00000674048.1:n.2792A>G | ||
| ENST00000265134.10:c.*187A>G | ENSP00000265134.6:n.*187A>G | |
| ENST00000362057.3:c.*187A>G | ENSP00000354623.3:n.*187A>G | |
| ENST00000374059.7:c.*187A>G | ENSP00000363172.3:n.*187A>G | |
| NM_001083885.2:c.*187A>G | NP_001077354.2:n.*187A>G | |
| NM_001173425.1:c.*187A>G | NP_001166896.1:n.*187A>G | |
| NM_015404.3:c.*187A>G | NP_056219.3:n.*187A>G | |
| XM_005251897.3:c.*187A>G | XP_005251954.2:n.*187A>G | |
| XM_011518484.1:c.*187A>G | XP_011516786.1:n.*187A>G | |
| XM_011518485.1:c.*187A>G | XP_011516787.1:n.*187A>G | |
| XM_011518486.1:c.*187A>G | XP_011516788.1:n.*187A>G | |
| XM_011518487.1:c.*187A>G | XP_011516789.1:n.*187A>G | |
| XM_011518488.1:c.*187A>G | XP_011516790.1:n.*187A>G | |
| XM_011518495.1:c.*187A>G | XP_011516797.1:n.*187A>G | |
| NM_001346890.1:c.*187A>G | NP_001333819.1:n.*187A>G | |
| XM_011518486.2:c.*187A>G | XP_011516788.1:n.*187A>G | |
| XM_011518487.2:c.*187A>G | XP_011516789.1:n.*187A>G | |
| XM_011518488.2:c.*187A>G | XP_011516790.1:n.*187A>G | |
| NM_015404.4:c.*187A>G MANE Select | NP_056219.3:n.*187A>G | |
| NM_001173425.2:c.*187A>G | NP_001166896.1:n.*187A>G | |
| NM_001083885.3:c.*187A>G | NP_001077354.2:n.*187A>G |