Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432117T>C , CM000663.2:g.229432117T>C | GRCh38 |
| NC_000001.10:g.229567864T>C , CM000663.1:g.229567864T>C | GRCh37 |
| NC_000001.9:g.227634487T>C | NCBI36 |
| NG_006672.1:g.6980A>G , LRG_429:g.6980A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.685A>G | ENSP00000355644.4:p.Met229Val | |
| ENST00000684723.1:c.550A>G | ENSP00000508084.1:p.Met184Val | |
| ENST00000366683.3:c.480-255A>G | ENSP00000355644.3:n.480-255A>G | |
| ENST00000366684.7:c.685A>G MANE Select | ENSP00000355645.3:p.Met229Val | |
| NM_001100.3:c.685A>G , LRG_429t1:c.685A>G | NP_001091.1:p.Met229Val | |
| NM_001100.4:c.685A>G MANE Select | NP_001091.1:p.Met229Val |