Linked Data
ClinVar Variation Id:
364477
dbSNP Id:
rs78086474
gnomAD v2:
9-107690328-C-A
gnomAD v3:
9-104928047-C-A
gnomAD v4:
9-104928047-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.104928047C>A , CM000671.2:g.104928047C>A | GRCh38 |
| NC_000009.11:g.107690328C>A , CM000671.1:g.107690328C>A | GRCh37 |
| NC_000009.10:g.106730149C>A | NCBI36 |
| NG_007981.1:g.5109G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374736.8:c.-205G>T MANE Select | ENSP00000363868.3:n.-205G>T | |
| ENST00000678995.1:c.-205G>T | ENSP00000504612.1:n.-205G>T | |
| ENST00000374733.1:c.-227G>T | ENSP00000363865.1:n.-227G>T | |
| ENST00000374736.7:c.-205G>T | ENSP00000363868.3:n.-205G>T | |
| ENST00000423487.6:c.-205G>T | ENSP00000416623.2:n.-205G>T | |
| NM_005502.3:c.-205G>T | NP_005493.2:n.-205G>T | |
| XM_005251773.1:c.-205G>T | XP_005251830.1:n.-205G>T | |
| XM_005251776.1:c.-227G>T | XP_005251833.1:n.-227G>T | |
| XM_011518339.1:c.-205G>T | XP_011516641.1:n.-205G>T | |
| XM_011518341.1:c.-205G>T | XP_011516643.1:n.-205G>T | |
| XM_011518342.1:c.-268G>T | XP_011516644.1:n.-268G>T | |
| XM_011518343.1:c.-205G>T | XP_011516645.1:n.-205G>T | |
| XM_011518344.1:c.-205G>T | XP_011516646.1:n.-205G>T | |
| XR_930204.1:n.734+137C>A | ||
| XM_005251773.3:c.-205G>T | XP_005251830.1:n.-205G>T | |
| XM_005251776.3:c.-227G>T | XP_005251833.1:n.-227G>T | |
| XM_011518339.3:c.-205G>T | XP_011516641.1:n.-205G>T | |
| XM_011518341.3:c.-205G>T | XP_011516643.1:n.-205G>T | |
| XM_011518342.3:c.-268G>T | XP_011516644.1:n.-268G>T | |
| XM_011518344.2:c.-205G>T | XP_011516646.1:n.-205G>T | |
| XR_001746223.1:n.109G>T | ||
| XR_930204.2:n.115+137C>A | ||
| NM_005502.4:c.-205G>T MANE Select | NP_005493.2:n.-205G>T |