Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215888503C>T , CM000663.2:g.215888503C>T | GRCh38 |
| NC_000001.10:g.216061845C>T , CM000663.1:g.216061845C>T | GRCh37 |
| NC_000001.9:g.214128468C>T | NCBI36 |
| NG_009497.1:g.539894G>A | |
| NG_009497.2:g.539946G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_206933.4:c.8146G>A MANE Select | NP_996816.3:p.Glu2716Lys |
| ENST00000307340.8:c.8146G>A MANE Select | ENSP00000305941.3:p.Glu2716Lys |
| NM_206933.2:c.8146G>A | NP_996816.2:p.Glu2716Lys |
| NM_206933.3:c.8146G>A | NP_996816.2:p.Glu2716Lys |
| ENST00000307340.7:c.8146G>A | ENSP00000305941.3:p.Glu2716Lys |
| ENST00000674083.1:c.8146G>A | ENSP00000501296.1:p.Glu2716Lys |