Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49121728C>A , CM000665.2:g.49121728C>A | GRCh38 |
| NC_000003.11:g.49159161C>A , CM000665.1:g.49159161C>A | GRCh37 |
| NC_000003.10:g.49134165C>A | NCBI36 |
| NG_008094.1:g.16439G>T | |
| NG_054716.1:g.4211G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002292.4:c.5056G>T MANE Select | NP_002283.3:p.Glu1686Ter |
| ENST00000305544.9:c.5056G>T MANE Select | ENSP00000307156.4:p.Glu1686Ter |
| NM_002292.3:c.5056G>T | NP_002283.3:p.Glu1686Ter |
| ENST00000305544.8:c.5056G>T | ENSP00000307156.4:p.Glu1686Ter |
| ENST00000418109.5:c.5056G>T | ENSP00000388325.1:p.Glu1686Ter |
| ENST00000467506.5:n.166G>T | |
| ENST00000498377.1:n.711G>T | |
| XM_005265127.3:c.5056G>T | XP_005265184.1:p.Glu1686Ter |
| XM_005265127.4:c.5056G>T | XP_005265184.1:p.Glu1686Ter |