Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169487723C>A , CM000664.2:g.169487723C>A | GRCh38 |
| NC_000002.11:g.170344233C>A , CM000664.1:g.170344233C>A | GRCh37 |
| NC_000002.10:g.170052479C>A | NCBI36 |
| NG_011567.1:g.13228C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295240.8:c.209-83C>A MANE Select | ENSP00000295240.3:n.209-83C>A | |
| ENST00000295240.7:c.209-83C>A | ENSP00000295240.3:n.209-83C>A | |
| ENST00000392663.6:c.209-83C>A | ENSP00000376431.2:n.209-83C>A | |
| ENST00000443151.1:c.143-264C>A | ENSP00000406182.1:n.143-264C>A | |
| ENST00000513963.1:c.209-83C>A | ENSP00000424363.1:n.209-83C>A | |
| NM_152384.2:c.209-83C>A | NP_689597.1:n.209-83C>A | |
| NM_152384.3:c.209-83C>A MANE Select | NP_689597.1:n.209-83C>A |