Linked Data
dbSNP Id:
rs549451267
ExAC:
8:19809385 G / A
gnomAD v2:
8-19809385-G-A
gnomAD v3:
8-19951874-G-A
gnomAD v4:
8-19951874-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951874G>A , CM000670.2:g.19951874G>A | GRCh38 |
| NC_000008.10:g.19809385G>A , CM000670.1:g.19809385G>A | GRCh37 |
| NC_000008.9:g.19853665G>A | NCBI36 |
| NG_008855.1:g.17804G>A | |
| NG_008855.2:g.55158G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.355G>A MANE Select | ENSP00000497642.1:p.Glu119Lys | |
| ENST00000311322.8:c.355G>A | ENSP00000309757.6:p.Glu119Lys | |
| ENST00000520959.5:c.127G>A | ENSP00000428496.1:p.Glu43Lys | |
| ENST00000524029.5:c.355G>A | ENSP00000428237.1:p.Glu119Lys | |
| NM_000237.2:c.355G>A | NP_000228.1:p.Glu119Lys | |
| NM_000237.3:c.355G>A MANE Select | NP_000228.1:p.Glu119Lys |