Linked Data
dbSNP Id:
rs767840257
ExAC:
8:19809297 G / C
gnomAD v2:
8-19809297-G-C
gnomAD v4:
8-19951786-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951786G>C , CM000670.2:g.19951786G>C | GRCh38 |
| NC_000008.10:g.19809297G>C , CM000670.1:g.19809297G>C | GRCh37 |
| NC_000008.9:g.19853577G>C | NCBI36 |
| NG_008855.1:g.17716G>C | |
| NG_008855.2:g.55070G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.267G>C MANE Select | ENSP00000497642.1:p.Glu89Asp | |
| ENST00000311322.8:c.267G>C | ENSP00000309757.6:p.Glu89Asp | |
| ENST00000520959.5:c.39G>C | ENSP00000428496.1:p.Glu13Asp | |
| ENST00000521994.1:n.524G>C | ||
| ENST00000522701.5:c.267G>C | ENSP00000428557.1:p.Glu89Asp | |
| ENST00000524029.5:c.267G>C | ENSP00000428237.1:p.Glu89Asp | |
| NM_000237.2:c.267G>C | NP_000228.1:p.Glu89Asp | |
| NM_000237.3:c.267G>C MANE Select | NP_000228.1:p.Glu89Asp |