Linked Data
ClinVar Variation Id:
2769936
ClinVar RCV Id:
RCV003592188
dbSNP Id:
rs755372392
ExAC:
17:80037330 G / A
gnomAD v2:
17-80037330-G-A
gnomAD v3:
17-82079454-G-A
gnomAD v4:
17-82079454-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82079454G>A , CM000679.2:g.82079454G>A | GRCh38 |
| NC_000017.10:g.80037330G>A , CM000679.1:g.80037330G>A | GRCh37 |
| NC_000017.9:g.77630619G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306749.4:c.7301C>T MANE Select | ENSP00000304592.2:p.Thr2434Ile | |
| ENST00000306749.3:c.7301C>T | ENSP00000304592.2:p.Thr2434Ile | |
| ENST00000578424.2:n.580C>T | ||
| ENST00000580382.1:c.471C>T | ||
| ENST00000584610.2:n.476C>T | ||
| ENST00000634990.1:c.7295C>T | ENSP00000488964.1:p.Thr2432Ile | |
| NM_004104.4:c.7301C>T | NP_004095.4:p.Thr2434Ile | |
| XM_011523538.1:c.7301C>T | XP_011521840.1:p.Thr2434Ile | |
| XM_011523538.2:c.7301C>T | XP_011521840.1:p.Thr2434Ile | |
| NM_004104.5:c.7301C>T MANE Select | NP_004095.4:p.Thr2434Ile |