Linked Data
ClinVar Variation Id:
364357
dbSNP Id:
rs528656411
gnomAD v2:
9-107545378-T-C
gnomAD v3:
9-104783097-T-C
gnomAD v4:
9-104783097-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.104783097T>C , CM000671.2:g.104783097T>C | GRCh38 |
| NC_000009.11:g.107545378T>C , CM000671.1:g.107545378T>C | GRCh37 |
| NC_000009.10:g.106585199T>C | NCBI36 |
| NG_007981.1:g.150059A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374736.8:c.*1218A>G MANE Select | ENSP00000363868.3:n.*1218A>G | |
| ENST00000678995.1:c.*1218A>G | ENSP00000504612.1:n.*1218A>G | |
| ENST00000374736.7:c.*1218A>G | ENSP00000363868.3:n.*1218A>G | |
| NM_005502.3:c.*1218A>G | NP_005493.2:n.*1218A>G | |
| XM_005251773.1:c.*1218A>G | XP_005251830.1:n.*1218A>G | |
| XM_005251776.1:c.*1218A>G | XP_005251833.1:n.*1218A>G | |
| XM_011518339.1:c.*1218A>G | XP_011516641.1:n.*1218A>G | |
| XM_011518340.1:c.*1218A>G | XP_011516642.1:n.*1218A>G | |
| XM_011518341.1:c.*1218A>G | XP_011516643.1:n.*1218A>G | |
| XM_011518342.1:c.*1218A>G | XP_011516644.1:n.*1218A>G | |
| XM_005251773.3:c.*1218A>G | XP_005251830.1:n.*1218A>G | |
| XM_005251776.3:c.*1218A>G | XP_005251833.1:n.*1218A>G | |
| XM_011518339.3:c.*1218A>G | XP_011516641.1:n.*1218A>G | |
| XM_011518340.3:c.*1218A>G | XP_011516642.1:n.*1218A>G | |
| XM_011518341.3:c.*1218A>G | XP_011516643.1:n.*1218A>G | |
| XM_011518342.3:c.*1218A>G | XP_011516644.1:n.*1218A>G | |
| XM_017014378.2:c.*1218A>G | XP_016869867.1:n.*1218A>G | |
| XM_017014379.2:c.*1218A>G | XP_016869868.1:n.*1218A>G | |
| XM_017014380.2:c.*1218A>G | XP_016869869.1:n.*1218A>G | |
| XM_017014381.2:c.*1218A>G | XP_016869870.1:n.*1218A>G | |
| XM_017014382.2:c.*1218A>G | XP_016869871.1:n.*1218A>G | |
| NM_005502.4:c.*1218A>G MANE Select | NP_005493.2:n.*1218A>G |