Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154953922G>C , CM000685.2:g.154953922G>C | GRCh38 |
| NC_000023.10:g.154182197G>C , CM000685.1:g.154182197G>C | GRCh37 |
| NC_000023.9:g.153835391G>C | NCBI36 |
| NG_011403.1:g.73802C>G | |
| NG_011403.2:g.73802C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1873C>G MANE Select | ENSP00000353393.4:p.Pro625Ala | |
| ENST00000647125.1:c.*1749C>G | ENSP00000496062.1:n.*1749C>G | |
| ENST00000360256.8:c.1873C>G | ENSP00000353393.4:p.Pro625Ala | |
| NM_000132.3:c.1873C>G | NP_000123.1:p.Pro625Ala | |
| XM_011531126.1:c.1768C>G | XP_011529428.1:p.Pro590Ala | |
| NM_000132.4:c.1873C>G MANE Select | NP_000123.1:p.Pro625Ala |