Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.118974364G>T , CM000664.2:g.118974364G>T | GRCh38 |
| NC_000002.11:g.119731940G>T , CM000664.1:g.119731940G>T | GRCh37 |
| NC_000002.10:g.119448410G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006770.4:c.492G>T MANE Select | NP_006761.1:p.Met164Ile |
| ENST00000327097.5:c.492G>T MANE Select | ENSP00000318916.4:p.Met164Ile |
| NM_006770.3:c.492G>T | NP_006761.1:p.Met164Ile |
| ENST00000327097.4:c.492G>T | ENSP00000318916.4:p.Met164Ile |
| XM_011512082.1:c.492G>T | XP_011510384.1:p.Met164Ile |
| XM_011512082.2:c.492G>T | XP_011510384.1:p.Met164Ile |
| XM_011512083.1:c.129G>T | XP_011510385.1:p.Met43Ile |
| XM_011512083.3:c.129G>T | XP_011510385.1:p.Met43Ile |
| XM_017005171.2:c.492G>T | XP_016860660.1:p.Met164Ile |