Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16138117G>C , CM000663.2:g.16138117G>C | GRCh38 |
| NC_000001.10:g.16464612G>C , CM000663.1:g.16464612G>C | GRCh37 |
| NC_000001.9:g.16337199G>C | NCBI36 |
| NG_021396.1:g.22971C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358432.8:c.1048C>G MANE Select | ENSP00000351209.5:p.Pro350Ala | |
| ENST00000358432.7:c.1048C>G | ENSP00000351209.5:p.Pro350Ala | |
| ENST00000480202.1:n.253C>G | ||
| NM_004431.3:c.1048C>G | NP_004422.2:p.Pro350Ala | |
| NM_001329090.1:c.886C>G | NP_001316019.1:p.Pro296Ala | |
| NM_004431.4:c.1048C>G | NP_004422.2:p.Pro350Ala | |
| XM_017000537.1:c.1048C>G | XP_016856026.1:p.Pro350Ala | |
| NM_004431.5:c.1048C>G MANE Select | NP_004422.2:p.Pro350Ala | |
| NM_001329090.2:c.886C>G | NP_001316019.1:p.Pro296Ala |