Linked Data
ClinVar Variation Id:
15837
ClinVar RCV Id:
RCV000017182
dbSNP Id:
rs281860657
PubMed:
PMID:2347082
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177004G>C , CM000678.2:g.177004G>C | GRCh38 |
| NC_000016.9:g.227003G>C , CM000678.1:g.227003G>C | GRCh37 |
| NC_000016.8:g.167003G>C | NCBI36 |
| NG_000006.1:g.37867G>C | |
| NG_059186.1:g.5354G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.171G>C MANE Select | ENSP00000322421.5:p.Lys57Asn | |
| ENST00000397797.1:c.75G>C | ENSP00000380899.1:p.Lys25Asn | |
| ENST00000472694.1:n.307G>C | ||
| ENST00000487791.1:n.140G>C | ||
| NM_000558.4:c.171G>C | NP_000549.1:p.Lys57Asn | |
| NM_000558.5:c.171G>C MANE Select | NP_000549.1:p.Lys57Asn |