Linked Data
dbSNP Id:
rs2501324
ExAC:
1:159856429 C / T
gnomAD v2:
1-159856429-C-T
gnomAD v3:
1-159886639-C-T
gnomAD v4:
1-159886639-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159886639C>T , CM000663.2:g.159886639C>T | GRCh38 |
| NC_000001.10:g.159856429C>T , CM000663.1:g.159856429C>T | GRCh37 |
| NC_000001.9:g.158123053C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368099.9:c.639G>A MANE Select | ENSP00000357079.4:p.Glu213= | |
| ENST00000368099.8:c.639G>A | ENSP00000357079.4:p.Glu213= | |
| ENST00000426543.6:c.384G>A | ENSP00000403044.2:p.Glu128= | |
| ENST00000476696.5:c.639G>A | ENSP00000483972.1:p.Glu213= | |
| ENST00000479940.2:c.384G>A | ENSP00000478944.1:p.Glu128= | |
| NM_012337.2:c.639G>A | NP_036469.2:p.Glu213= | |
| NM_012337.3:c.639G>A MANE Select | NP_036469.2:p.Glu213= |