Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110911148G>C , CM000674.2:g.110911148G>C | GRCh38 |
| NC_000012.11:g.111348952G>C , CM000674.1:g.111348952G>C | GRCh37 |
| NC_000012.10:g.109833335G>C | NCBI36 |
| NG_007554.1:g.14430C>G , LRG_393:g.14430C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228841.15:c.430C>G MANE Select | ENSP00000228841.8:p.Pro144Ala | |
| ENST00000663220.1:c.373C>G | ENSP00000499568.1:p.Pro125Ala | |
| ENST00000228841.12:c.430C>G | ENSP00000228841.7:p.Pro144Ala | |
| ENST00000548438.1:c.388C>G | ENSP00000447154.1:p.Pro130Ala | |
| NM_000432.3:c.430C>G , LRG_393t1:c.430C>G | NP_000423.2:p.Pro144Ala | |
| NM_000432.4:c.430C>G MANE Select | NP_000423.2:p.Pro144Ala |