Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128395260T>C , CM000667.2:g.128395260T>C | GRCh38 |
| NC_000005.9:g.127730953T>C , CM000667.1:g.127730953T>C | GRCh37 |
| NC_000005.8:g.127758852T>C | NCBI36 |
| NG_008750.1:g.147783A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001999.4:c.1093A>G MANE Select | NP_001990.2:p.Met365Val |
| ENST00000262464.9:c.1093A>G MANE Select | ENSP00000262464.4:p.Met365Val |
| NM_001999.3:c.1093A>G | NP_001990.2:p.Met365Val |
| ENST00000262464.8:c.1093A>G | ENSP00000262464.4:p.Met365Val |
| ENST00000508053.5:c.1093A>G | ENSP00000424571.1:p.Met365Val |
| ENST00000508989.5:c.994A>G | ENSP00000425596.1:p.Met332Val |
| ENST00000619499.4:c.1090A>G | ENSP00000482132.1:p.Met364Val |
| ENST00000703787.1:n.800A>G | |
| XM_017009228.2:c.1079-1892A>G | XP_016864717.1:n.1079-1892A>G |