Linked Data
dbSNP Id:
rs767476001
ExAC:
7:44187371 G / A
gnomAD v2:
7-44187371-G-A
gnomAD v3:
7-44147772-G-A
gnomAD v4:
7-44147772-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44147772G>A , CM000669.2:g.44147772G>A | GRCh38 |
| NC_000007.13:g.44187371G>A , CM000669.1:g.44187371G>A | GRCh37 |
| NC_000007.12:g.44153896G>A | NCBI36 |
| NG_008847.1:g.46652C>T | |
| NG_008847.2:g.55399C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*739C>T | ENSP00000379142.4:n.*739C>T | |
| ENST00000616242.5:c.741C>T | ENSP00000482149.2:p.Asp247= | |
| ENST00000345378.7:c.744C>T | ENSP00000223366.2:p.Asp248= | |
| ENST00000403799.8:c.741C>T MANE Select | ENSP00000384247.3:p.Asp247= | |
| ENST00000671824.1:c.741C>T | ENSP00000500264.1:p.Asp247= | |
| ENST00000673284.1:c.741C>T | ENSP00000499852.1:p.Asp247= | |
| ENST00000345378.6:c.744C>T | ENSP00000223366.2:p.Asp248= | |
| ENST00000395796.7:c.738C>T | ENSP00000379142.3:p.Asp246= | |
| ENST00000403799.7:c.741C>T | ENSP00000384247.3:p.Asp247= | |
| ENST00000437084.1:c.690C>T | ENSP00000402840.1:p.Asp230= | |
| ENST00000616242.4:c.738C>T | ENSP00000482149.1:p.Asp246= | |
| NM_000162.3:c.741C>T | NP_000153.1:p.Asp247= | |
| NM_033507.1:c.744C>T | NP_277042.1:p.Asp248= | |
| NM_033508.1:c.738C>T | NP_277043.1:p.Asp246= | |
| XR_927223.1:n.82+24G>A | ||
| NM_000162.4:c.741C>T | NP_000153.1:p.Asp247= | |
| NM_001354800.1:c.741C>T | NP_001341729.1:p.Asp247= | |
| NM_033507.2:c.744C>T | NP_277042.1:p.Asp248= | |
| NM_033508.2:c.738C>T | NP_277043.1:p.Asp246= | |
| XR_927223.2:n.82+24G>A | ||
| NM_000162.5:c.741C>T MANE Select | NP_000153.1:p.Asp247= | |
| NM_033507.3:c.744C>T | NP_277042.1:p.Asp248= | |
| NM_033508.3:c.738C>T | NP_277043.1:p.Asp246= |