Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110512039G>A , CM000675.2:g.110512039G>A | GRCh38 |
| NC_000013.10:g.111164386G>A , CM000675.1:g.111164386G>A | GRCh37 |
| NC_000013.9:g.109962387G>A | NCBI36 |
| NG_032137.1:g.209756G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360467.7:c.4987G>A MANE Select | ENSP00000353654.5:p.Gly1663Ser | |
| ENST00000648222.1:n.675G>A | ||
| ENST00000650225.1:n.2642G>A | ||
| ENST00000360467.5:c.4987G>A | ENSP00000353654.5:p.Gly1663Ser | |
| ENST00000463084.1:n.585G>A | ||
| NM_001846.2:c.4987G>A | NP_001837.2:p.Gly1663Ser | |
| NM_001846.3:c.4987G>A | NP_001837.2:p.Gly1663Ser | |
| NM_001846.4:c.4987G>A MANE Select | NP_001837.2:p.Gly1663Ser |