Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.145912292C>A , CM000663.2:g.145912292C>A | GRCh38 |
| NC_000001.10:g.145522788G>T , CM000663.1:g.145522788G>T | GRCh37 |
| NC_000001.9:g.144234145G>T | NCBI36 |
| NG_033000.3:g.11633G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369306.8:c.649G>T MANE Select | ENSP00000358312.3:p.Asp217Tyr | |
| ENST00000369306.7:c.649G>T | ENSP00000358312.3:p.Asp217Tyr | |
| ENST00000428634.1:c.115G>T | ENSP00000414018.1:p.Asp39Tyr | |
| ENST00000537888.1:c.607G>T | ENSP00000437510.1:p.Asp203Tyr | |
| NM_001184795.1:c.607G>T | NP_001171724.1:p.Asp203Tyr | |
| NM_003846.2:c.649G>T | NP_003837.1:p.Asp217Tyr | |
| NR_073491.1:n.881G>T | ||
| NR_073492.1:n.875G>T | ||
| NR_073493.2:n.1097G>T | ||
| NM_003846.3:c.649G>T MANE Select | NP_003837.1:p.Asp217Tyr | |
| NR_073491.2:n.674G>T | ||
| NR_073492.2:n.668G>T |