Linked Data
dbSNP Id:
rs757953549
ExAC:
1:169512110 G / T
gnomAD v2:
1-169512110-G-T
gnomAD v3:
1-169542872-G-T
gnomAD v4:
1-169542872-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169542872G>T , CM000663.2:g.169542872G>T | GRCh38 |
| NC_000001.10:g.169512110G>T , CM000663.1:g.169512110G>T | GRCh37 |
| NC_000001.9:g.167778734G>T | NCBI36 |
| NG_011806.1:g.48660C>A , LRG_553:g.48660C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367797.9:c.2218C>A MANE Select | ENSP00000356771.3:p.Arg740= | |
| ENST00000367796.3:c.2233C>A | ENSP00000356770.3:p.Arg745= | |
| ENST00000367797.7:c.2218C>A | ENSP00000356771.3:p.Arg740= | |
| NM_000130.4:c.2218C>A , LRG_553t1:c.2218C>A | NP_000121.2:p.Arg740= | |
| XM_017000660.2:c.1807C>A | XP_016856149.1:p.Arg603= | |
| NM_000130.5:c.2218C>A MANE Select | NP_000121.2:p.Arg740= |