Linked Data
ClinVar Variation Id:
203993
ClinVar RCV Id:
RCV000186215
dbSNP Id:
rs758083465
ExAC:
17:4458481 G / A
gnomAD v2:
17-4458481-G-A
gnomAD v3:
17-4555186-G-A
gnomAD v4:
17-4555186-G-A
PubMed:
PMID:27148569
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4555186G>A , CM000679.2:g.4555186G>A | GRCh38 |
| NC_000017.10:g.4458481G>A , CM000679.1:g.4458481G>A | GRCh37 |
| NC_000017.9:g.4405230G>A | NCBI36 |
| NG_047119.1:g.5201C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254718.9:c.139C>T MANE Select | ENSP00000254718.4:p.Gln47Ter | |
| ENST00000254718.8:c.139C>T | ENSP00000254718.4:p.Gln47Ter | |
| ENST00000381556.6:c.139C>T | ENSP00000370968.2:p.Gln47Ter | |
| ENST00000570986.1:n.173C>T | ||
| NM_001105538.1:c.139C>T | NP_001099008.1:p.Gln47Ter | |
| NM_014520.3:c.139C>T | NP_055335.2:p.Gln47Ter | |
| XM_011523616.2:c.-629C>T | XP_011521918.1:n.-629C>T | |
| XM_024450536.1:c.139C>T | XP_024306304.1:p.Gln47Ter | |
| XR_002957950.1:n.166C>T | ||
| NM_014520.4:c.139C>T MANE Select | NP_055335.2:p.Gln47Ter | |
| NM_001105538.2:c.139C>T | NP_001099008.1:p.Gln47Ter |