Linked Data
dbSNP Id:
rs780954441
ExAC:
6:42690031 G / A
gnomAD v2:
6-42690031-G-A
gnomAD v4:
6-42722293-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42722293G>A , CM000668.2:g.42722293G>A | GRCh38 |
| NC_000006.11:g.42690031G>A , CM000668.1:g.42690031G>A | GRCh37 |
| NC_000006.10:g.42798009G>A | NCBI36 |
| NG_009176.1:g.5328C>T | |
| NG_009176.2:g.5328C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.42C>T MANE Select | ENSP00000230381.5:p.Val14= | |
| ENST00000230381.6:c.42C>T | ENSP00000230381.5:p.Val14= | |
| NM_000322.4:c.42C>T | NP_000313.2:p.Val14= | |
| XR_427834.2:n.697C>T | ||
| XR_926295.1:n.697C>T | ||
| XR_427834.4:n.747C>T | ||
| XR_926295.3:n.747C>T | ||
| NM_000322.5:c.42C>T MANE Select | NP_000313.2:p.Val14= |