Linked Data
dbSNP Id:
rs758224256
ExAC:
7:6431609 C / A
gnomAD v2:
7-6431609-C-A
gnomAD v3:
7-6391978-C-A
gnomAD v4:
7-6391978-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.6391978C>A , CM000669.2:g.6391978C>A | GRCh38 |
| NC_000007.13:g.6431609C>A , CM000669.1:g.6431609C>A | GRCh37 |
| NC_000007.12:g.6398134C>A | NCBI36 |
| NG_029431.1:g.22484C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696666.1:n.350C>A | ||
| ENST00000704002.1:c.261C>A | ENSP00000515615.1:p.Gly87= | |
| ENST00000704003.1:c.*115C>A | ENSP00000515616.1:n.*115C>A | |
| ENST00000348035.9:c.162C>A MANE Select | ENSP00000258737.7:p.Gly54= | |
| ENST00000348035.8:c.162C>A | ENSP00000258737.7:p.Gly54= | |
| ENST00000356142.4:c.162C>A | ENSP00000348461.4:p.Gly54= | |
| ENST00000488373.5:n.393C>A | ||
| ENST00000497741.5:n.178C>A | ||
| NM_006908.4:c.162C>A | NP_008839.2:p.Gly54= | |
| NM_018890.3:c.162C>A | NP_061485.1:p.Gly54= | |
| NM_006908.5:c.162C>A MANE Select | NP_008839.2:p.Gly54= | |
| NM_018890.4:c.162C>A | NP_061485.1:p.Gly54= |