Linked Data
ClinVar Variation Id:
433531
ClinVar RCV Id:
RCV000503104
dbSNP Id:
rs761564262
ExAC:
19:44051036 C / G
gnomAD v2:
19-44051036-C-G
gnomAD v4:
19-43546884-C-G
PubMed:
PMID:28002403
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43546884C>G , CM000681.2:g.43546884C>G | GRCh38 |
| NC_000019.9:g.44051036C>G , CM000681.1:g.44051036C>G | GRCh37 |
| NC_000019.8:g.48742876C>G | NCBI36 |
| NG_033799.1:g.33695G>C , LRG_784:g.33695G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262887.10:c.1293G>C MANE Select | ENSP00000262887.5:p.Lys431Asn | |
| ENST00000262887.9:c.1293G>C | ENSP00000262887.4:p.Lys431Asn | |
| ENST00000543982.5:c.1200G>C | ENSP00000443671.1:p.Lys400Asn | |
| NM_006297.2:c.1293G>C , LRG_784t1:c.1293G>C | NP_006288.2:p.Lys431Asn | |
| NM_006297.3:c.1293G>C MANE Select | NP_006288.2:p.Lys431Asn |