Linked Data
ClinVar Variation Id:
183320
ClinVar RCV Id:
RCV000162143
dbSNP Id:
rs199722402
ExAC:
15:41279384 C / T
gnomAD v2:
15-41279384-C-T
gnomAD v3:
15-40987186-C-T
gnomAD v4:
15-40987186-C-T
PubMed:
PMID:25558065
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40987186C>T , CM000677.2:g.40987186C>T | GRCh38 |
| NC_000015.9:g.41279384C>T , CM000677.1:g.41279384C>T | GRCh37 |
| NC_000015.8:g.39066676C>T | NCBI36 |
| NG_017163.1:g.133957G>A | |
| NG_017163.2:g.135593G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000558270.2:n.1676G>A | ||
| ENST00000560799.6:n.629G>A | ||
| ENST00000696948.1:n.568G>A | ||
| ENST00000696949.1:c.*1626G>A | ENSP00000512991.1:n.*1626G>A | |
| ENST00000696950.1:n.3936G>A | ||
| ENST00000696951.1:n.505G>A | ||
| ENST00000558357.6:c.*294G>A | ENSP00000453677.1:n.*294G>A | |
| ENST00000559995.2:c.1676G>A | ENSP00000454057.2:n.1676G>A | |
| ENST00000648947.1:c.3737G>A MANE Select | ENSP00000497609.1:p.Arg1246Gln | |
| ENST00000361937.7:c.3737G>A | ENSP00000355205.3:p.Arg1246Gln | |
| ENST00000401393.7:c.3737G>A | ENSP00000384686.3:p.Arg1246Gln | |
| ENST00000558357.5:c.*294G>A | ENSP00000453677.1:n.*294G>A | |
| ENST00000560799.5:n.349G>A | ||
| ENST00000561244.1:n.320G>A | ||
| ENST00000616814.4:c.119G>A | ENSP00000483661.1:p.Arg40Gln | |
| NM_017553.2:c.3737G>A | NP_060023.1:p.Arg1246Gln | |
| NR_104038.1:n.3926G>A | ||
| XM_011521686.1:c.1787G>A | XP_011519988.1:p.Arg596Gln | |
| NM_017553.3:c.3737G>A MANE Select | NP_060023.1:p.Arg1246Gln | |
| XM_011521686.3:c.1787G>A | XP_011519988.1:p.Arg596Gln | |
| NR_104038.2:n.3960G>A |