Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48474642C>G , CM000677.2:g.48474642C>G | GRCh38 |
| NC_000015.9:g.48766839C>G , CM000677.1:g.48766839C>G | GRCh37 |
| NC_000015.8:g.46554131C>G | NCBI36 |
| NG_008805.2:g.176147G>C , LRG_778:g.176147G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000138.5:c.3973G>C MANE Select | NP_000129.3:p.Glu1325Gln |
| ENST00000316623.10:c.3973G>C MANE Select | ENSP00000325527.5:p.Glu1325Gln |
| NM_000138.4:c.3973G>C , LRG_778t1:c.3973G>C | NP_000129.3:p.Glu1325Gln |
| ENST00000316623.9:c.3973G>C | ENSP00000325527.5:p.Glu1325Gln |
| ENST00000537463.6:c.645G>C | ENSP00000440294.2:p.Met215Ile |
| ENST00000559133.6:c.3973G>C | ENSP00000453958.2:p.Glu1325Gln |
| ENST00000674301.2:c.3973G>C | ENSP00000501333.2:p.Glu1325Gln |
| ENST00000684448.1:n.2647G>C |