Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.67066159C>G , CM000677.2:g.67066159C>G | GRCh38 |
| NC_000015.9:g.67358497C>G , CM000677.1:g.67358497C>G | GRCh37 |
| NC_000015.8:g.65145551C>G | NCBI36 |
| NG_011990.1:g.5303C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559460.6:c.-110+2215C>G | ENSP00000453082.2:n.-110+2215C>G | |
| ENST00000560424.2:c.5C>G | ENSP00000455540.2:p.Ser2Trp | |
| ENST00000327367.9:c.5C>G MANE Select | ENSP00000332973.4:p.Ser2Trp | |
| ENST00000327367.8:c.5C>G | ENSP00000332973.4:p.Ser2Trp | |
| ENST00000559460.5:c.-110+2215C>G | ENSP00000453082.1:n.-110+2215C>G | |
| NM_005902.3:c.5C>G | NP_005893.1:p.Ser2Trp | |
| XM_011521559.1:c.5C>G | XP_011519861.1:p.Ser2Trp | |
| XM_011521559.3:c.5C>G | XP_011519861.1:p.Ser2Trp | |
| NM_005902.4:c.5C>G MANE Select | NP_005893.1:p.Ser2Trp |