Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232525225G>T , CM000664.2:g.232525225G>T | GRCh38 |
| NC_000002.11:g.233389935G>T , CM000664.1:g.233389935G>T | GRCh37 |
| NC_000002.10:g.233098179G>T | NCBI36 |
| NG_008028.1:g.4014G>T | |
| NG_031969.1:g.9763G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001195129.2:c.1531G>T MANE Select | NP_001182058.1:p.Asp511Tyr |
| ENST00000617714.2:c.1531G>T MANE Select | ENSP00000479745.1:p.Asp511Tyr |
| NM_001195129.1:c.1531G>T | NP_001182058.1:p.Asp511Tyr |
| NM_001369848.1:c.1534G>T | NP_001356777.1:p.Asp512Tyr |
| ENST00000449534.6:c.1534G>T | ENSP00000473410.1:p.Asp512Tyr |
| ENST00000617714.1:c.1531G>T | ENSP00000479745.1:p.Asp511Tyr |