Linked Data
dbSNP Id:
rs1448571180
gnomAD v2:
9-139412596-G-A
gnomAD v3:
9-136518144-G-A
gnomAD v4:
9-136518144-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136518144G>A , CM000671.2:g.136518144G>A | GRCh38 |
| NC_000009.11:g.139412596G>A , CM000671.1:g.139412596G>A | GRCh37 |
| NC_000009.10:g.138532417G>A | NCBI36 |
| NG_007458.1:g.32643C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651671.1:c.1248C>T MANE Select | ENSP00000498587.1:p.Cys416= | |
| ENST00000679595.1:c.1248C>T | ENSP00000506241.1:p.Cys416= | |
| ENST00000680133.1:c.1248C>T | ENSP00000505319.1:p.Cys416= | |
| ENST00000680218.1:c.1248C>T | ENSP00000505339.1:p.Cys416= | |
| ENST00000680668.1:c.1248C>T | ENSP00000506336.1:p.Cys416= | |
| ENST00000680924.1:c.1248C>T | ENSP00000506031.1:p.Cys416= | |
| ENST00000681135.1:c.1248C>T | ENSP00000506636.1:p.Cys416= | |
| ENST00000681454.1:c.*484C>T | ENSP00000505763.1:n.*484C>T | |
| ENST00000277541.6:c.1248C>T | ENSP00000277541.6:p.Cys416= | |
| NM_017617.3:c.1248C>T | NP_060087.3:p.Cys416= | |
| XM_011518717.1:c.549C>T | XP_011517019.1:p.Cys183= | |
| NM_017617.5:c.1248C>T MANE Select | NP_060087.3:p.Cys416= | |
| XM_011518717.2:c.525C>T | XP_011517019.2:p.Cys175= |