Linked Data
dbSNP Id:
rs1487386106
gnomAD v2:
6-42690043-C-A
gnomAD v3:
6-42722305-C-A
gnomAD v4:
6-42722305-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42722305C>A , CM000668.2:g.42722305C>A | GRCh38 |
| NC_000006.11:g.42690043C>A , CM000668.1:g.42690043C>A | GRCh37 |
| NC_000006.10:g.42798021C>A | NCBI36 |
| NG_009176.1:g.5316G>T | |
| NG_009176.2:g.5316G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.30G>T MANE Select | ENSP00000230381.5:p.Gln10His | |
| ENST00000230381.6:c.30G>T | ENSP00000230381.5:p.Gln10His | |
| NM_000322.4:c.30G>T | NP_000313.2:p.Gln10His | |
| XR_427834.2:n.685G>T | ||
| XR_926295.1:n.685G>T | ||
| XR_427834.4:n.735G>T | ||
| XR_926295.3:n.735G>T | ||
| NM_000322.5:c.30G>T MANE Select | NP_000313.2:p.Gln10His |