Linked Data
dbSNP Id:
rs1595268222
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.93218685G>A , CM000676.2:g.93218685G>A | GRCh38 |
| NC_000014.8:g.93685031G>A , CM000676.1:g.93685031G>A | GRCh37 |
| NC_000014.7:g.92754784G>A | NCBI36 |
| NG_051089.1:g.16630G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000013070.11:c.760G>A MANE Select | ENSP00000013070.6:p.Glu254Lys | |
| ENST00000013070.10:c.760G>A | ENSP00000013070.6:p.Glu254Lys | |
| ENST00000416753.5:c.532G>A | ENSP00000391706.2:p.Glu178Lys | |
| ENST00000553674.1:c.*461G>A | ENSP00000450470.1:n.*461G>A | |
| ENST00000553857.5:c.378+3404G>A | ||
| ENST00000555329.1:c.5G>A | ||
| NM_175748.3:c.760G>A | NP_786924.2:p.Glu254Lys | |
| NR_038150.1:n.862G>A | ||
| NM_175748.4:c.760G>A MANE Select | NP_786924.2:p.Glu254Lys | |
| NR_038150.2:n.662G>A |