Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110424806G>A , CM000675.2:g.110424806G>A | GRCh38 |
| NC_000013.10:g.111077153G>A , CM000675.1:g.111077153G>A | GRCh37 |
| NC_000013.9:g.109875154G>A | NCBI36 |
| NG_032137.1:g.122523G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360467.7:c.253G>A MANE Select | ENSP00000353654.5:p.Gly85Arg | |
| ENST00000400163.7:c.253G>A | ENSP00000383027.3:p.Gly85Arg | |
| ENST00000619688.2:c.5G>A | ||
| ENST00000650540.1:c.253G>A | ENSP00000497878.1:p.Gly85Arg | |
| ENST00000360467.5:c.253G>A | ENSP00000353654.5:p.Gly85Arg | |
| ENST00000400163.6:c.253G>A | ENSP00000383027.2:p.Gly85Arg | |
| NM_001846.2:c.253G>A | NP_001837.2:p.Gly85Arg | |
| NM_001846.3:c.253G>A | NP_001837.2:p.Gly85Arg | |
| NM_001846.4:c.253G>A MANE Select | NP_001837.2:p.Gly85Arg |