Linked Data
dbSNP Id:
rs753462820
ExAC:
9:97401533 C / T
gnomAD v2:
9-97401533-C-T
gnomAD v3:
9-94639251-C-T
gnomAD v4:
9-94639251-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.94639251C>T , CM000671.2:g.94639251C>T | GRCh38 |
| NC_000009.11:g.97401533C>T , CM000671.1:g.97401533C>T | GRCh37 |
| NC_000009.10:g.96441354C>T | NCBI36 |
| NG_008174.1:g.5999G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682520.1:c.60G>A | ENSP00000507547.1:p.Glu20= | |
| ENST00000375326.9:c.60G>A MANE Select | ENSP00000364475.5:p.Glu20= | |
| ENST00000375326.8:c.60G>A | ENSP00000364475.4:p.Glu20= | |
| ENST00000414122.1:c.-83+793G>A | ENSP00000411619.1:n.-83+793G>A | |
| ENST00000415431.5:c.60G>A | ENSP00000408025.1:p.Glu20= | |
| NM_000507.3:c.60G>A | NP_000498.2:p.Glu20= | |
| NM_001127628.1:c.60G>A | NP_001121100.1:p.Glu20= | |
| XM_006717005.2:c.-77+793G>A | XP_006717068.1:n.-77+793G>A | |
| XM_006717005.4:c.-77+793G>A | XP_006717068.1:n.-77+793G>A | |
| NM_000507.4:c.60G>A MANE Select | NP_000498.2:p.Glu20= | |
| NM_001127628.2:c.60G>A | NP_001121100.1:p.Glu20= |