Linked Data
ClinVar Variation Id:
39827
ClinVar RCV Id:
RCV000033047
RCV000190888
RCV000320667
RCV000415235
RCV000735417
RCV002251943
RCV002477042
RCV002513312
dbSNP Id:
rs201431517
ExAC:
15:65313871 G / A
gnomAD v2:
15-65313871-G-A
gnomAD v3:
15-65021533-G-A
gnomAD v4:
15-65021533-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65021533G>A , CM000677.2:g.65021533G>A | GRCh38 |
| NC_000015.9:g.65313871G>A , CM000677.1:g.65313871G>A | GRCh37 |
| NC_000015.8:g.63100924G>A | NCBI36 |
| NG_029184.1:g.13107C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000220058.9:c.626C>T MANE Select | ENSP00000220058.4:p.Ser209Leu | |
| ENST00000220058.8:c.626C>T | ENSP00000220058.4:p.Ser209Leu | |
| ENST00000543678.1:c.420-1261C>T | ENSP00000443754.1:n.420-1261C>T | |
| ENST00000558460.5:c.626C>T | ENSP00000452646.1:p.Ser209Leu | |
| ENST00000558614.1:n.504-1261C>T | ||
| ENST00000560717.5:c.501C>T | ENSP00000457257.1:n.501C>T | |
| ENST00000561025.1:n.185C>T | ||
| NM_139242.3:c.626C>T | NP_640335.2:p.Ser209Leu | |
| XM_005254158.3:c.371C>T | XP_005254215.1:p.Ser124Leu | |
| XM_005254158.5:c.779C>T | XP_005254215.2:p.Ser260Leu | |
| XR_001751081.1:n.711-1261C>T | ||
| NM_139242.4:c.626C>T MANE Select | NP_640335.2:p.Ser209Leu |