Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.39583689A>G , CM000677.2:g.39583689A>G | GRCh38 |
| NC_000015.9:g.39875890A>G , CM000677.1:g.39875890A>G | GRCh37 |
| NC_000015.8:g.37663182A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003246.4:c.700A>G MANE Select | NP_003237.2:p.Ser234Gly |
| ENST00000260356.6:c.700A>G MANE Select | ENSP00000260356.5:p.Ser234Gly |
| NM_003246.2:c.700A>G | NP_003237.2:p.Ser234Gly |
| NM_003246.3:c.700A>G | NP_003237.2:p.Ser234Gly |
| ENST00000260356.5:c.700A>G | ENSP00000260356.5:p.Ser234Gly |
| XM_011521970.1:c.700A>G | XP_011520272.1:p.Ser234Gly |
| XM_011521971.1:c.700A>G | XP_011520273.1:p.Ser234Gly |
| XM_011521971.2:c.700A>G | XP_011520273.1:p.Ser234Gly |
| XR_931897.1:n.875A>G |