Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.51247207C>G , CM000676.2:g.51247207C>G | GRCh38 |
| NC_000014.8:g.51713925C>G , CM000676.1:g.51713925C>G | GRCh37 |
| NC_000014.7:g.50783675C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_030755.5:c.430C>G MANE Select | NP_110382.3:p.Pro144Ala |
| ENST00000457354.7:c.430C>G MANE Select | ENSP00000393316.2:p.Pro144Ala |
| NM_030755.4:c.430C>G | NP_110382.3:p.Pro144Ala |
| ENST00000457354.6:c.430C>G | ENSP00000393316.2:p.Pro144Ala |
| ENST00000556683.1:c.*208C>G | ENSP00000451585.1:n.*208C>G |