Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52028016C= , CM000666.2:g.52028016C= | GRCh38 |
| NC_000004.11:g.52894182C= , CM000666.1:g.52894182C= | GRCh37 |
| NC_000004.10:g.52588939C= | NCBI36 |
| NG_008891.1:g.15304G= , LRG_204:g.15304G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.705G= MANE Select | ENSP00000370839.6:p.Met235= | |
| ENST00000381431.9:c.705G= | ENSP00000370839.5:p.Met235= | |
| NM_000232.4:c.705G= , LRG_204t1:c.705G= | NP_000223.1:p.Met235= | |
| XM_006714049.2:c.408G= | XP_006714112.1:p.Met136= | |
| XM_011534403.1:c.495G= | XP_011532705.1:p.Met165= | |
| XM_011534404.1:c.408G= | XP_011532706.1:p.Met136= | |
| NM_000232.5:c.705G= MANE Select | NP_000223.1:p.Met235= |