Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32110064G>A , CM000684.2:g.32110064G>A | GRCh38 |
| NC_000022.10:g.32506051G>A , CM000684.1:g.32506051G>A | GRCh37 |
| NC_000022.9:g.30836051G>A | NCBI36 |
| NG_017045.1:g.72033G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000343.4:c.1846G>A MANE Select | NP_000334.1:p.Gly616Ser |
| ENST00000266088.9:c.1846G>A MANE Select | ENSP00000266088.4:p.Gly616Ser |
| NM_000343.3:c.1846G>A | NP_000334.1:p.Gly616Ser |
| NM_001256314.1:c.1465G>A | NP_001243243.1:p.Gly489Ser |
| NM_001256314.2:c.1465G>A | NP_001243243.1:p.Gly489Ser |
| ENST00000266088.8:c.1846G>A | ENSP00000266088.4:p.Gly616Ser |
| ENST00000543737.2:c.1465G>A | ENSP00000444898.1:p.Gly489Ser |
| XR_938172.1:n.487-3122C>T | |
| XR_938172.2:n.491-3122C>T | |
| XR_938173.1:n.487-3122C>T | |
| XR_938174.1:n.486+9791C>T |