Linked Data
ClinVar Variation Id:
1370637
ClinVar RCV Id:
RCV001864331
dbSNP Id:
rs1761906163
gnomAD v4:
6-42721808-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42721808T>A , CM000668.2:g.42721808T>A | GRCh38 |
| NC_000006.11:g.42689546T>A , CM000668.1:g.42689546T>A | GRCh37 |
| NC_000006.10:g.42797524T>A | NCBI36 |
| NG_009176.1:g.5813A>T | |
| NG_009176.2:g.5813A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.527A>T MANE Select | ENSP00000230381.5:p.Glu176Val | |
| ENST00000230381.6:c.527A>T | ENSP00000230381.5:p.Glu176Val | |
| NM_000322.4:c.527A>T | NP_000313.2:p.Glu176Val | |
| XR_427834.2:n.1182A>T | ||
| XR_926295.1:n.1182A>T | ||
| XR_427834.4:n.1232A>T | ||
| XR_926295.3:n.1232A>T | ||
| NM_000322.5:c.527A>T MANE Select | NP_000313.2:p.Glu176Val |