Linked Data
dbSNP Id:
rs769236699
ExAC:
4:41748271 C / A
gnomAD v2:
4-41748271-C-A
gnomAD v3:
4-41746254-C-A
gnomAD v4:
4-41746254-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41746254C>A , CM000666.2:g.41746254C>A | GRCh38 |
| NC_000004.11:g.41748271C>A , CM000666.1:g.41748271C>A | GRCh37 |
| NC_000004.10:g.41443028C>A | NCBI36 |
| NG_008243.1:g.7717G>T , LRG_513:g.7717G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.498G>T MANE Select | ENSP00000226382.2:p.Ala166= | |
| ENST00000226382.3:c.498G>T | ENSP00000226382.2:p.Ala166= | |
| ENST00000510424.2:n.319G>T | ||
| NM_003924.3:c.498G>T , LRG_513t1:c.498G>T | NP_003915.2:p.Ala166= | |
| NM_003924.4:c.498G>T MANE Select | NP_003915.2:p.Ala166= |