Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50134229T>C , CM000676.2:g.50134229T>C | GRCh38 |
| NC_000014.8:g.50600947T>C , CM000676.1:g.50600947T>C | GRCh37 |
| NC_000014.7:g.49670697T>C | NCBI36 |
| NG_051073.1:g.102465A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006939.4:c.2969A>G MANE Select | NP_008870.2:p.Glu990Gly |
| ENST00000216373.10:c.2969A>G MANE Select | ENSP00000216373.5:p.Glu990Gly |
| NM_006939.2:c.2969A>G | NP_008870.2:p.Glu990Gly |
| NM_006939.3:c.2969A>G | NP_008870.2:p.Glu990Gly |
| ENST00000216373.9:c.2969A>G | ENSP00000216373.5:p.Glu990Gly |
| ENST00000543680.5:c.2870A>G | ENSP00000445328.1:p.Glu957Gly |
| XM_005268021.1:c.2789A>G | XP_005268078.1:p.Glu930Gly |
| XM_011537103.1:c.2930A>G | XP_011535405.1:p.Glu977Gly |
| XM_011537104.1:c.2796A>G | XP_011535406.1:p.Ter932Trp |