Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.37537842T>C , CM000663.2:g.37537842T>C | GRCh38 |
| NC_000001.10:g.38003443T>C , CM000663.1:g.38003443T>C | GRCh37 |
| NC_000001.9:g.37776030T>C | NCBI36 |
| NG_032170.1:g.21503A>G | |
| NG_032170.2:g.21503A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024700.4:c.1097A>G MANE Select | NP_078976.2:p.Glu366Gly |
| ENST00000296215.8:c.1097A>G MANE Select | ENSP00000296215.5:p.Glu366Gly |
| NM_024700.3:c.1097A>G | NP_078976.2:p.Glu366Gly |
| ENST00000296215.6:c.1097A>G | ENSP00000296215.5:p.Glu366Gly |
| ENST00000638725.1:n.1609A>G | |
| XM_011542160.1:c.854A>G | XP_011540462.1:p.Glu285Gly |
| XR_001737980.1:n.565-847T>C | |
| XR_947190.1:n.188-847T>C | |
| XR_947190.2:n.207-847T>C | |
| XR_947191.1:n.188-847T>C |