Linked Data
dbSNP Id:
rs1349151202
gnomAD v2:
9-75435861-G-A
gnomAD v3:
9-72820945-G-A
gnomAD v4:
9-72820945-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72820945G>A , CM000671.2:g.72820945G>A | GRCh38 |
| NC_000009.11:g.75435861G>A , CM000671.1:g.75435861G>A | GRCh37 |
| NC_000009.10:g.74625681G>A | NCBI36 |
| NG_008213.1:g.304145G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.1867G>A MANE Select | ENSP00000297784.6:p.Glu623Lys | |
| ENST00000644967.1:c.*307G>A | ENSP00000496159.1:n.*307G>A | |
| ENST00000645053.1:c.1258-5924G>A | ENSP00000493838.1:n.1258-5924G>A | |
| ENST00000645208.2:c.1867G>A | ENSP00000494684.1:p.Glu623Lys | |
| ENST00000645773.1:c.1741G>A | ENSP00000493698.1:p.Glu581Lys | |
| ENST00000645787.1:n.2010G>A | ||
| ENST00000646619.1:c.1429G>A | ENSP00000493726.1:p.Glu477Lys | |
| ENST00000651183.1:c.1429G>A | ENSP00000498723.1:p.Glu477Lys | |
| ENST00000297784.9:c.1867G>A | ENSP00000297784.5:p.Glu623Lys | |
| ENST00000340019.4:c.1867G>A | ENSP00000341433.3:p.Glu623Lys | |
| ENST00000469455.1:n.348G>A | ||
| ENST00000486417.5:n.765G>A | ||
| NM_138691.2:c.1867G>A | NP_619636.2:p.Glu623Lys | |
| XM_011518213.1:c.2455G>A | XP_011516515.1:p.Glu819Lys | |
| XM_017014256.1:c.1870G>A | XP_016869745.1:p.Glu624Lys | |
| NM_138691.3:c.1867G>A MANE Select | NP_619636.2:p.Glu623Lys |