Linked Data
ClinVar Variation Id:
2731629
ClinVar RCV Id:
RCV003580072
dbSNP Id:
rs139689690
ExAC:
17:7978952 C / T
gnomAD v2:
17-7978952-C-T
gnomAD v3:
17-8075634-C-T
gnomAD v4:
17-8075634-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8075634C>T , CM000679.2:g.8075634C>T | GRCh38 |
| NC_000017.10:g.7978952C>T , CM000679.1:g.7978952C>T | GRCh37 |
| NC_000017.9:g.7919677C>T | NCBI36 |
| NG_007099.1:g.17070G>A | |
| NG_007099.2:g.17083G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647874.1:c.1615G>A MANE Select | ENSP00000497784.1:p.Glu539Lys | |
| ENST00000649809.1:c.679G>A | ENSP00000496845.1:p.Glu227Lys | |
| ENST00000319144.4:c.1615G>A | ENSP00000315167.4:p.Glu539Lys | |
| ENST00000577351.5:n.479+541G>A | ||
| NM_001139.2:c.1615G>A | NP_001130.1:p.Glu539Lys | |
| NM_001139.3:c.1615G>A MANE Select | NP_001130.1:p.Glu539Lys |