Linked Data
ClinVar Variation Id:
771585
ClinVar RCV Id:
RCV000950926
dbSNP Id:
rs1140624
ExAC:
17:80037040 G / A
gnomAD v2:
17-80037040-G-A
gnomAD v3:
17-82079164-G-A
gnomAD v4:
17-82079164-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82079164G>A , CM000679.2:g.82079164G>A | GRCh38 |
| NC_000017.10:g.80037040G>A , CM000679.1:g.80037040G>A | GRCh37 |
| NC_000017.9:g.77630329G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306749.4:c.7515C>T MANE Select | ENSP00000304592.2:p.Arg2505= | |
| ENST00000306749.3:c.7515C>T | ENSP00000304592.2:p.Arg2505= | |
| ENST00000578424.2:n.794C>T | ||
| ENST00000584610.2:n.690C>T | ||
| ENST00000634990.1:c.7509C>T | ENSP00000488964.1:p.Arg2503= | |
| NM_004104.4:c.7515C>T | NP_004095.4:p.Arg2505= | |
| XM_011523538.1:c.7515C>T | XP_011521840.1:p.Arg2505= | |
| XM_011523538.2:c.7515C>T | XP_011521840.1:p.Arg2505= | |
| NM_004104.5:c.7515C>T MANE Select | NP_004095.4:p.Arg2505= |