Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154863110T>C , CM000685.2:g.154863110T>C | GRCh38 |
| NC_000023.10:g.154091385T>C , CM000685.1:g.154091385T>C | GRCh37 |
| NC_000023.9:g.153744579T>C | NCBI36 |
| NG_011403.1:g.164614A>G | |
| NG_011403.2:g.164614A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.6547A>G MANE Select | ENSP00000353393.4:p.Met2183Val | |
| ENST00000644698.1:c.280A>G | ENSP00000495706.1:p.Met94Val | |
| ENST00000330287.10:c.142A>G | ENSP00000327895.6:p.Met48Val | |
| ENST00000360256.8:c.6547A>G | ENSP00000353393.4:p.Met2183Val | |
| NM_000132.3:c.6547A>G | NP_000123.1:p.Met2183Val | |
| NM_019863.2:c.142A>G | NP_063916.1:p.Met48Val | |
| XM_011531126.1:c.6442A>G | XP_011529428.1:p.Met2148Val | |
| NM_000132.4:c.6547A>G MANE Select | NP_000123.1:p.Met2183Val | |
| NM_019863.3:c.142A>G | NP_063916.1:p.Met48Val |