Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126826056G>A , CM000667.2:g.126826056G>A | GRCh38 |
| NC_000005.9:g.126161748G>A , CM000667.1:g.126161748G>A | GRCh37 |
| NC_000005.8:g.126189647G>A | NCBI36 |
| NG_008360.2:g.53916G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261366.10:c.1560G>A MANE Select | ENSP00000261366.5:p.Ser520= | |
| ENST00000261366.9:c.1560G>A | ENSP00000261366.5:p.Ser520= | |
| ENST00000460265.5:c.*648G>A | ENSP00000486528.1:n.*648G>A | |
| ENST00000504788.5:n.1293G>A | ||
| NM_001198557.1:c.930G>A | NP_001185486.1:p.Ser310= | |
| NM_005573.3:c.1560G>A | NP_005564.1:p.Ser520= | |
| XR_948250.1:n.2002G>A | ||
| NR_134488.1:n.2524G>A | ||
| NM_005573.4:c.1560G>A MANE Select | NP_005564.1:p.Ser520= | |
| NM_001198557.2:c.930G>A | NP_001185486.1:p.Ser310= |