Linked Data
ClinVar Variation Id:
3068640
ClinVar RCV Id:
RCV003994709
dbSNP Id:
rs1278604861
gnomAD v2:
17-62019115-C-G
gnomAD v3:
17-63941755-C-G
gnomAD v4:
17-63941755-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63941755C>G , CM000679.2:g.63941755C>G | GRCh38 |
| NC_000017.10:g.62019115C>G , CM000679.1:g.62019115C>G | GRCh37 |
| NC_000017.9:g.59372847C>G | NCBI36 |
| NG_011699.1:g.36164G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.4527G>C MANE Select | ENSP00000396320.1:p.Lys1509Asn | |
| ENST00000578147.5:c.4527G>C | ENSP00000463963.1:p.Lys1509Asn | |
| NM_000334.4:c.4527G>C MANE Select | NP_000325.4:p.Lys1509Asn | |
| XM_005257566.3:c.4527G>C | XP_005257623.1:p.Lys1509Asn |