Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30993235C>T , CM000678.2:g.30993235C>T | GRCh38 |
| NC_000016.9:g.31004556C>T , CM000678.1:g.31004556C>T | GRCh37 |
| NC_000016.8:g.30912057C>T | NCBI36 |
| NG_041829.1:g.22274G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215095.11:c.681G>A MANE Select | ENSP00000215095.5:p.Glu227= | |
| ENST00000565419.2:c.681G>A | ENSP00000455899.1:p.Glu227= | |
| ENST00000215095.9:c.681G>A | ENSP00000215095.5:p.Glu227= | |
| ENST00000565419.1:c.681G>A | ENSP00000455899.1:p.Glu227= | |
| ENST00000569638.5:c.429G>A | ENSP00000457067.1:p.Glu143= | |
| NM_052874.4:c.681G>A | NP_443106.1:p.Glu227= | |
| XM_017022893.1:c.663G>A | XP_016878382.1:p.Glu221= | |
| NM_052874.5:c.681G>A MANE Select | NP_443106.1:p.Glu227= |