Linked Data
ClinVar Variation Id:
995749
ClinVar RCV Id:
RCV001289958
dbSNP Id:
rs768093512
ExAC:
17:7978973 C / T
gnomAD v2:
17-7978973-C-T
gnomAD v4:
17-8075655-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8075655C>T , CM000679.2:g.8075655C>T | GRCh38 |
| NC_000017.10:g.7978973C>T , CM000679.1:g.7978973C>T | GRCh37 |
| NC_000017.9:g.7919698C>T | NCBI36 |
| NG_007099.1:g.17049G>A | |
| NG_007099.2:g.17062G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647874.1:c.1594G>A MANE Select | ENSP00000497784.1:p.Glu532Lys | |
| ENST00000649809.1:c.658G>A | ENSP00000496845.1:p.Glu220Lys | |
| ENST00000319144.4:c.1594G>A | ENSP00000315167.4:p.Glu532Lys | |
| ENST00000577351.5:n.479+520G>A | ||
| NM_001139.2:c.1594G>A | NP_001130.1:p.Glu532Lys | |
| NM_001139.3:c.1594G>A MANE Select | NP_001130.1:p.Glu532Lys |