Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940174G>A , CM000678.2:g.67940174G>A | GRCh38 |
| NC_000016.9:g.67974077G>A , CM000678.1:g.67974077G>A | GRCh37 |
| NC_000016.8:g.66531578G>A | NCBI36 |
| NG_009778.1:g.8939C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000229.2:c.1053C>T MANE Select | NP_000220.1:p.Tyr351= |
| ENST00000264005.10:c.1053C>T MANE Select | ENSP00000264005.5:p.Tyr351= |
| NM_000229.1:c.1053C>T | NP_000220.1:p.Tyr351= |
| ENST00000264005.9:c.1053C>T | ENSP00000264005.5:p.Tyr351= |
| ENST00000570369.5:c.156-100C>T | |
| ENST00000573538.5:c.791C>T | ENSP00000463220.1:n.791C>T |