Linked Data
dbSNP Id:
rs781942028
ExAC:
7:75211420 G / T
gnomAD v2:
7-75211420-G-T
gnomAD v4:
7-75582104-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.75582104G>T , CM000669.2:g.75582104G>T | GRCh38 |
| NC_000007.13:g.75211420G>T , CM000669.1:g.75211420G>T | GRCh37 |
| NC_000007.12:g.75049356G>T | NCBI36 |
| NG_023251.2:g.161858C>A | |
| NG_023251.3:g.161858C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336926.11:c.513C>A MANE Select | ENSP00000336747.6:p.Asp171Glu | |
| ENST00000336926.10:c.513C>A | ENSP00000336747.6:p.Asp171Glu | |
| ENST00000420909.1:c.426C>A | ENSP00000414280.1:p.Asp142Glu | |
| ENST00000434438.6:c.513C>A | ENSP00000410300.2:p.Asp171Glu | |
| ENST00000616821.4:c.426C>A | ENSP00000484528.1:p.Asp142Glu | |
| NM_001243198.2:c.513C>A | NP_001230127.1:p.Asp171Glu | |
| NM_005338.6:c.513C>A | NP_005329.3:p.Asp171Glu | |
| XM_005250304.2:c.426C>A | XP_005250361.1:p.Asp142Glu | |
| XM_005250305.2:c.411C>A | XP_005250362.1:p.Asp137Glu | |
| XM_011516116.1:c.513C>A | XP_011514418.1:p.Asp171Glu | |
| XM_011516116.2:c.513C>A | XP_011514418.1:p.Asp171Glu | |
| XM_017012099.1:c.471C>A | XP_016867588.1:p.Asp157Glu | |
| NM_005338.7:c.513C>A MANE Select | NP_005329.3:p.Asp171Glu | |
| NM_001243198.3:c.513C>A | NP_001230127.1:p.Asp171Glu | |
| NM_001382444.1:c.411C>A | NP_001369373.1:p.Asp137Glu | |
| NM_001382445.1:c.426C>A | NP_001369374.1:p.Asp142Glu |