Linked Data
dbSNP Id:
rs759778820
ExAC:
13:52971617 C / A
gnomAD v2:
13-52971617-C-A
gnomAD v4:
13-52397482-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.52397482C>A , CM000675.2:g.52397482C>A | GRCh38 |
| NC_000013.10:g.52971617C>A , CM000675.1:g.52971617C>A | GRCh37 |
| NC_000013.9:g.51869618C>A | NCBI36 |
| NG_047168.1:g.14013G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258613.5:c.771G>T MANE Select | ENSP00000258613.4:p.Glu257Asp | |
| ENST00000648254.1:c.771G>T | ENSP00000497520.1:p.Glu257Asp | |
| ENST00000258613.4:c.771G>T | ENSP00000258613.4:p.Glu257Asp | |
| ENST00000349258.8:c.771G>T | ENSP00000340650.4:p.Glu257Asp | |
| NM_018676.3:c.771G>T | NP_061146.1:p.Glu257Asp | |
| NM_199263.2:c.771G>T | NP_954872.1:p.Glu257Asp | |
| NM_018676.4:c.771G>T MANE Select | NP_061146.1:p.Glu257Asp | |
| NM_199263.3:c.771G>T | NP_954872.1:p.Glu257Asp |