Linked Data
ClinVar Variation Id:
39845
ClinVar RCV Id:
RCV000033072
dbSNP Id:
rs397515427
gnomAD v3:
19-42356848-G-A
gnomAD v4:
19-42356848-G-A
PubMed:
PMID:23063620
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.42356848G>A , CM000681.2:g.42356848G>A | GRCh38 |
| NC_000019.9:g.42861000G>A , CM000681.1:g.42861000G>A | GRCh37 |
| NC_000019.8:g.47552840G>A | NCBI36 |
| NG_033030.1:g.36240G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251268.11:c.4697G>A MANE Select | ENSP00000251268.5:p.Arg1566His | |
| ENST00000251268.10:c.4697G>A | ENSP00000251268.5:p.Arg1566His | |
| ENST00000334370.8:c.4496G>A | ENSP00000334219.4:p.Arg1499His | |
| ENST00000378073.5:c.-2389G>A | ENSP00000367313.4:n.-2389G>A | |
| NM_001271938.1:c.4697G>A | NP_001258867.1:p.Arg1566His | |
| NM_001410.2:c.4496G>A | NP_001401.2:p.Arg1499His | |
| NM_001271938.2:c.4697G>A MANE Select | NP_001258867.1:p.Arg1566His | |
| NM_001410.3:c.4496G>A | NP_001401.2:p.Arg1499His |