Linked Data
dbSNP Id:
rs778094343
ExAC:
6:42690094 T / A
gnomAD v2:
6-42690094-T-A
gnomAD v4:
6-42722356-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42722356T>A , CM000668.2:g.42722356T>A | GRCh38 |
| NC_000006.11:g.42690094T>A , CM000668.1:g.42690094T>A | GRCh37 |
| NC_000006.10:g.42798072T>A | NCBI36 |
| NG_009176.1:g.5265A>T | |
| NG_009176.2:g.5265A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.-22A>T MANE Select | ENSP00000230381.5:n.-22A>T | |
| ENST00000230381.6:c.-22A>T | ENSP00000230381.5:n.-22A>T | |
| NM_000322.4:c.-22A>T | NP_000313.2:n.-22A>T | |
| XR_427834.2:n.634A>T | ||
| XR_926295.1:n.634A>T | ||
| XR_427834.4:n.684A>T | ||
| XR_926295.3:n.684A>T | ||
| NM_000322.5:c.-22A>T MANE Select | NP_000313.2:n.-22A>T |