Linked Data
dbSNP Id:
rs267602634
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94775390G>A , CM000672.2:g.94775390G>A | GRCh38 |
| NC_000010.10:g.96535147G>A , CM000672.1:g.96535147G>A | GRCh37 |
| NC_000010.9:g.96525137G>A | NCBI36 |
| NG_008384.2:g.17685G>A | |
| NG_008384.3:g.17710G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371321.9:c.332G>A MANE Select | ENSP00000360372.3:p.Gly111Glu | |
| ENST00000645461.1:n.1385G>A | ||
| ENST00000371321.7:c.332G>A | ENSP00000360372.3:p.Gly111Glu | |
| ENST00000464755.1:c.1095G>A | ENSP00000483243.1:n.1095G>A | |
| ENST00000480405.2:c.332G>A | ENSP00000483847.1:p.Gly111Glu | |
| NM_000769.2:c.332G>A | NP_000760.1:p.Gly111Glu | |
| NM_000769.4:c.332G>A MANE Select | NP_000760.1:p.Gly111Glu |