Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50231271G>C , CM000676.2:g.50231271G>C | GRCh38 |
| NC_000014.8:g.50697989G>C , CM000676.1:g.50697989G>C | GRCh37 |
| NC_000014.7:g.49767739G>C | NCBI36 |
| NG_051073.1:g.5423C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006939.4:c.13C>G MANE Select | NP_008870.2:p.Pro5Ala |
| ENST00000216373.10:c.13C>G MANE Select | ENSP00000216373.5:p.Pro5Ala |
| NM_006939.2:c.13C>G | NP_008870.2:p.Pro5Ala |
| NM_006939.3:c.13C>G | NP_008870.2:p.Pro5Ala |
| ENST00000216373.9:c.13C>G | ENSP00000216373.5:p.Pro5Ala |
| ENST00000543680.5:c.13C>G | ENSP00000445328.1:p.Pro5Ala |
| ENST00000556452.1:c.13C>G | ENSP00000452553.1:p.Pro5Ala |
| XM_011537103.1:c.-86C>G | XP_011535405.1:n.-86C>G |
| XM_011537104.1:c.13C>G | XP_011535406.1:p.Pro5Ala |