Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154860563T>C , CM000685.2:g.154860563T>C | GRCh38 |
| NC_000023.10:g.154088838T>C , CM000685.1:g.154088838T>C | GRCh37 |
| NC_000023.9:g.153742032T>C | NCBI36 |
| NG_011403.1:g.167161A>G | |
| NG_011403.2:g.167161A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.6769A>G MANE Select | NP_000123.1:p.Met2257Val |
| ENST00000360256.9:c.6769A>G MANE Select | ENSP00000353393.4:p.Met2257Val |
| NM_000132.3:c.6769A>G | NP_000123.1:p.Met2257Val |
| NM_019863.2:c.364A>G | NP_063916.1:p.Met122Val |
| NM_019863.3:c.364A>G | NP_063916.1:p.Met122Val |
| ENST00000330287.10:c.364A>G | ENSP00000327895.6:p.Met122Val |
| ENST00000360256.8:c.6769A>G | ENSP00000353393.4:p.Met2257Val |
| ENST00000644698.1:c.502A>G | ENSP00000495706.1:p.Met168Val |
| XM_011531126.1:c.6664A>G | XP_011529428.1:p.Met2222Val |