Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215999024C>A , CM000663.2:g.215999024C>A | GRCh38 |
| NC_000001.10:g.216172366C>A , CM000663.1:g.216172366C>A | GRCh37 |
| NC_000001.9:g.214238989C>A | NCBI36 |
| NG_009497.1:g.429373G>T | |
| NG_009497.2:g.429425G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_206933.4:c.6520G>T MANE Select | NP_996816.3:p.Glu2174Ter |
| ENST00000307340.8:c.6520G>T MANE Select | ENSP00000305941.3:p.Glu2174Ter |
| NM_206933.2:c.6520G>T | NP_996816.2:p.Glu2174Ter |
| NM_206933.3:c.6520G>T | NP_996816.2:p.Glu2174Ter |
| ENST00000307340.7:c.6520G>T | ENSP00000305941.3:p.Glu2174Ter |
| ENST00000674083.1:c.6520G>T | ENSP00000501296.1:p.Glu2174Ter |