Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94021846C>A , CM000663.2:g.94021846C>A | GRCh38 |
| NC_000001.10:g.94487402C>A , CM000663.1:g.94487402C>A | GRCh37 |
| NC_000001.9:g.94259990C>A | NCBI36 |
| NG_009073.1:g.104304G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.4773G>T MANE Select | NP_000341.2:p.Gly1591= |
| ENST00000370225.4:c.4773G>T MANE Select | ENSP00000359245.3:p.Gly1591= |
| NM_000350.2:c.4773G>T | NP_000341.2:p.Gly1591= |
| ENST00000370225.3:c.4773G>T | ENSP00000359245.3:p.Gly1591= |
| ENST00000460514.1:n.267G>T | |
| ENST00000536513.5:c.1149G>T | ENSP00000439707.2:p.Gly383= |