Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96144995C>G , CM000670.2:g.96144995C>G | GRCh38 |
| NC_000008.10:g.97157223C>G , CM000670.1:g.97157223C>G | GRCh37 |
| NC_000008.9:g.97226399C>G | NCBI36 |
| NG_008981.1:g.20798G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287020.7:c.936G>C MANE Select | ENSP00000287020.4:p.Ser312= | |
| ENST00000287020.6:c.936G>C | ENSP00000287020.4:p.Ser312= | |
| ENST00000620978.1:c.793+81G>C | ENSP00000480170.1:n.793+81G>C | |
| ENST00000621429.1:c.874+62G>C | ENSP00000483711.1:n.874+62G>C | |
| NM_001001557.2:c.936G>C | NP_001001557.1:p.Ser312= | |
| XM_011517030.1:c.537G>C | XP_011515332.1:p.Ser179= | |
| NM_001001557.3:c.936G>C | NP_001001557.1:p.Ser312= | |
| NM_001001557.4:c.936G>C MANE Select | NP_001001557.1:p.Ser312= |