Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30993171C>G , CM000678.2:g.30993171C>G | GRCh38 |
| NC_000016.9:g.31004492C>G , CM000678.1:g.31004492C>G | GRCh37 |
| NC_000016.8:g.30911993C>G | NCBI36 |
| NG_041829.1:g.22338G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215095.11:c.745G>C MANE Select | ENSP00000215095.5:p.Asp249His | |
| ENST00000565419.2:c.745G>C | ENSP00000455899.1:p.Asp249His | |
| ENST00000215095.9:c.745G>C | ENSP00000215095.5:p.Asp249His | |
| ENST00000565419.1:c.745G>C | ENSP00000455899.1:p.Asp249His | |
| ENST00000569638.5:c.493G>C | ENSP00000457067.1:p.Asp165His | |
| NM_052874.4:c.745G>C | NP_443106.1:p.Asp249His | |
| XM_017022893.1:c.727G>C | XP_016878382.1:p.Asp243His | |
| NM_052874.5:c.745G>C MANE Select | NP_443106.1:p.Asp249His |