Linked Data
ClinVar Variation Id:
364356
dbSNP Id:
rs148609447
gnomAD v2:
9-107545336-G-C
gnomAD v3:
9-104783055-G-C
gnomAD v4:
9-104783055-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.104783055G>C , CM000671.2:g.104783055G>C | GRCh38 |
| NC_000009.11:g.107545336G>C , CM000671.1:g.107545336G>C | GRCh37 |
| NC_000009.10:g.106585157G>C | NCBI36 |
| NG_007981.1:g.150101C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374736.8:c.*1260C>G MANE Select | ENSP00000363868.3:n.*1260C>G | |
| ENST00000678995.1:c.*1260C>G | ENSP00000504612.1:n.*1260C>G | |
| ENST00000374736.7:c.*1260C>G | ENSP00000363868.3:n.*1260C>G | |
| NM_005502.3:c.*1260C>G | NP_005493.2:n.*1260C>G | |
| XM_005251773.1:c.*1260C>G | XP_005251830.1:n.*1260C>G | |
| XM_005251776.1:c.*1260C>G | XP_005251833.1:n.*1260C>G | |
| XM_011518339.1:c.*1260C>G | XP_011516641.1:n.*1260C>G | |
| XM_011518340.1:c.*1260C>G | XP_011516642.1:n.*1260C>G | |
| XM_011518341.1:c.*1260C>G | XP_011516643.1:n.*1260C>G | |
| XM_011518342.1:c.*1260C>G | XP_011516644.1:n.*1260C>G | |
| XM_005251773.3:c.*1260C>G | XP_005251830.1:n.*1260C>G | |
| XM_005251776.3:c.*1260C>G | XP_005251833.1:n.*1260C>G | |
| XM_011518339.3:c.*1260C>G | XP_011516641.1:n.*1260C>G | |
| XM_011518340.3:c.*1260C>G | XP_011516642.1:n.*1260C>G | |
| XM_011518341.3:c.*1260C>G | XP_011516643.1:n.*1260C>G | |
| XM_011518342.3:c.*1260C>G | XP_011516644.1:n.*1260C>G | |
| XM_017014378.2:c.*1260C>G | XP_016869867.1:n.*1260C>G | |
| XM_017014379.2:c.*1260C>G | XP_016869868.1:n.*1260C>G | |
| XM_017014380.2:c.*1260C>G | XP_016869869.1:n.*1260C>G | |
| XM_017014381.2:c.*1260C>G | XP_016869870.1:n.*1260C>G | |
| XM_017014382.2:c.*1260C>G | XP_016869871.1:n.*1260C>G | |
| NM_005502.4:c.*1260C>G MANE Select | NP_005493.2:n.*1260C>G |