Linked Data
ClinVar Variation Id:
2064597
ClinVar RCV Id:
RCV002928848
dbSNP Id:
rs748998080
ExAC:
17:39780744 G / A
gnomAD v2:
17-39780744-G-A
gnomAD v3:
17-41624492-G-A
gnomAD v4:
17-41624492-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624492G>A , CM000679.2:g.41624492G>A | GRCh38 |
| NC_000017.10:g.39780744G>A , CM000679.1:g.39780744G>A | GRCh37 |
| NC_000017.9:g.37034270G>A | NCBI36 |
| NG_008625.1:g.5139C>T | |
| NG_009090.2:g.167221C>T , LRG_401:g.167221C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.18C>T MANE Select | ENSP00000308452.8:p.Arg6= | |
| ENST00000311208.12:c.18C>T | ENSP00000308452.8:p.Arg6= | |
| ENST00000463128.5:c.-313+251C>T | ENSP00000468672.1:n.-313+251C>T | |
| ENST00000491673.1:n.84C>T | ||
| ENST00000540235.5:c.-188C>T | ENSP00000441751.2:n.-188C>T | |
| NM_000422.2:c.18C>T | NP_000413.1:p.Arg6= | |
| NM_000422.3:c.18C>T MANE Select | NP_000413.1:p.Arg6= |