Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176093567T>C , CM000664.2:g.176093567T>C | GRCh38 |
| NC_000002.11:g.176958295T>C , CM000664.1:g.176958295T>C | GRCh37 |
| NC_000002.10:g.176666541T>C | NCBI36 |
| NG_008137.1:g.5764T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392539.4:c.677T>C MANE Select | ENSP00000376322.3:p.Met226Thr | |
| ENST00000392539.3:c.677T>C | ENSP00000376322.3:p.Met226Thr | |
| NM_000523.3:c.677T>C | NP_000514.2:p.Met226Thr | |
| XM_011511068.1:c.725-913T>C | XP_011509370.1:n.725-913T>C | |
| XM_011511068.2:c.725-913T>C | XP_011509370.1:n.725-913T>C | |
| NM_000523.4:c.677T>C MANE Select | NP_000514.2:p.Met226Thr |