Linked Data
dbSNP Id:
rs748453976
ExAC:
1:158582617 T / A
gnomAD v2:
1-158582617-T-A
gnomAD v4:
1-158612827-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.158612827T>A , CM000663.2:g.158612827T>A | GRCh38 |
| NC_000001.10:g.158582617T>A , CM000663.1:g.158582617T>A | GRCh37 |
| NC_000001.9:g.156849241T>A | NCBI36 |
| NG_011474.1:g.78890A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643759.2:c.7124A>T MANE Select | ENSP00000495214.1:p.Asp2375Val | |
| ENST00000368147.8:c.7124A>T | ENSP00000357129.4:p.Asp2375Val | |
| ENST00000481212.5:n.565A>T | ||
| ENST00000498708.1:n.556A>T | ||
| ENST00000614909.4:c.7124A>T | ENSP00000482595.1:p.Asp2375Val | |
| NM_003126.2:c.7124A>T | NP_003117.2:p.Asp2375Val | |
| XM_011509916.1:c.7124A>T | XP_011508218.1:p.Asp2375Val | |
| XM_011509917.1:c.7106A>T | XP_011508219.1:p.Asp2369Val | |
| NM_003126.3:c.7124A>T | NP_003117.2:p.Asp2375Val | |
| XM_011509916.2:c.7124A>T | XP_011508218.1:p.Asp2375Val | |
| XM_011509917.3:c.7106A>T | XP_011508219.1:p.Asp2369Val | |
| NM_003126.4:c.7124A>T MANE Select | NP_003117.2:p.Asp2375Val |