Linked Data
ClinVar Variation Id:
2577243
ClinVar RCV Id:
RCV003324320
dbSNP Id:
rs527267420
ExAC:
8:19809440 G / A
gnomAD v2:
8-19809440-G-A
gnomAD v3:
8-19951929-G-A
gnomAD v4:
8-19951929-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951929G>A , CM000670.2:g.19951929G>A | GRCh38 |
| NC_000008.10:g.19809440G>A , CM000670.1:g.19809440G>A | GRCh37 |
| NC_000008.9:g.19853720G>A | NCBI36 |
| NG_008855.1:g.17859G>A | |
| NG_008855.2:g.55213G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.410G>A MANE Select | ENSP00000497642.1:p.Arg137Gln | |
| ENST00000311322.8:c.410G>A | ENSP00000309757.6:p.Arg137Gln | |
| ENST00000520959.5:c.182G>A | ENSP00000428496.1:p.Arg61Gln | |
| NM_000237.2:c.410G>A | NP_000228.1:p.Arg137Gln | |
| NM_000237.3:c.410G>A MANE Select | NP_000228.1:p.Arg137Gln |