Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940054C>T , CM000678.2:g.67940054C>T | GRCh38 |
| NC_000016.9:g.67973957C>T , CM000678.1:g.67973957C>T | GRCh37 |
| NC_000016.8:g.66531458C>T | NCBI36 |
| NG_009778.1:g.9059G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000229.2:c.1173G>A MANE Select | NP_000220.1:p.Val391= |
| ENST00000264005.10:c.1173G>A MANE Select | ENSP00000264005.5:p.Val391= |
| NM_000229.1:c.1173G>A | NP_000220.1:p.Val391= |
| ENST00000264005.9:c.1173G>A | ENSP00000264005.5:p.Val391= |
| ENST00000570369.5:c.176G>A | |
| ENST00000573538.5:c.911G>A | ENSP00000463220.1:n.911G>A |