Linked Data
ClinVar Variation Id:
1077118
ClinVar RCV Id:
RCV001391249
dbSNP Id:
rs2122416610
PubMed:
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.57601774C>T , CM000680.2:g.57601774C>T | GRCh38 |
| NC_000018.9:g.55269006C>T , CM000680.1:g.55269006C>T | GRCh37 |
| NC_000018.8:g.53420004C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256854.10:c.1525G>A MANE Select | ENSP00000256854.4:p.Gly509Ser | |
| ENST00000256854.9:c.1525G>A | ENSP00000256854.4:p.Gly509Ser | |
| ENST00000586807.5:c.*705G>A | ENSP00000464988.1:n.*705G>A | |
| ENST00000589314.1:n.605G>A | ||
| NM_004539.3:c.1525G>A | NP_004530.1:p.Gly509Ser | |
| XM_005266700.1:c.1522G>A | XP_005266757.1:p.Gly508Ser | |
| XM_005266700.2:c.1522G>A | XP_005266757.1:p.Gly508Ser | |
| NM_004539.4:c.1525G>A MANE Select | NP_004530.1:p.Gly509Ser |