Linked Data
ClinVar Variation Id:
356130
ClinVar RCV Id:
RCV000321024
dbSNP Id:
rs773814880
ExAC:
6:24503567 G / A
gnomAD v2:
6-24503567-G-A
gnomAD v3:
6-24503339-G-A
gnomAD v4:
6-24503339-G-A
COSMIC:
COSM1076484
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24503339G>A , CM000668.2:g.24503339G>A | GRCh38 |
| NC_000006.11:g.24503567G>A , CM000668.1:g.24503567G>A | GRCh37 |
| NC_000006.10:g.24611546G>A | NCBI36 |
| NG_008161.1:g.13371G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.515G>A MANE Select | ENSP00000350191.3:p.Arg172His | |
| ENST00000672352.1:c.278G>A | ENSP00000500876.1:p.Arg93His | |
| ENST00000672557.1:c.433G>A | ||
| ENST00000672652.1:c.436G>A | ||
| ENST00000675422.1:n.1275G>A | ||
| ENST00000348925.2:c.515G>A | ENSP00000314649.3:p.Arg172His | |
| ENST00000357578.7:c.515G>A | ENSP00000350191.3:p.Arg172His | |
| ENST00000491546.5:c.431G>A | ENSP00000417687.1:p.Arg144His | |
| NM_001080.3:c.515G>A MANE Select | NP_001071.1:p.Arg172His | |
| NM_170740.1:c.515G>A | NP_733936.1:p.Arg172His | |
| NM_001368954.1:c.515G>A | NP_001355883.1:p.Arg172His |