Linked Data
ClinVar Variation Id:
2199
dbSNP Id:
rs119103280
ExAC:
19:50747534 G / T
gnomAD v2:
19-50747534-G-T
gnomAD v3:
19-50244277-G-T
gnomAD v4:
19-50244277-G-T
PubMed:
PMID:15015131
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50244277G>T , CM000681.2:g.50244277G>T | GRCh38 |
| NC_000019.9:g.50747534G>T , CM000681.1:g.50747534G>T | GRCh37 |
| NC_000019.8:g.55439346G>T | NCBI36 |
| NG_011645.1:g.45650G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000425460.6:c.1150G>T | ENSP00000407879.1:p.Gly384Cys | |
| ENST00000642316.2:c.1150G>T MANE Select | ENSP00000493594.1:p.Gly384Cys | |
| ENST00000646861.1:c.*185G>T | ENSP00000493667.1:n.*185G>T | |
| ENST00000376970.6:c.1126G>T | ENSP00000366169.3:p.Gly376Cys | |
| ENST00000425460.5:c.1150G>T | ENSP00000407879.1:p.Gly384Cys | |
| ENST00000440075.6:c.-1165G>T | ENSP00000406273.3:n.-1165G>T | |
| ENST00000596571.5:c.1126G>T | ENSP00000472819.1:p.Gly376Cys | |
| ENST00000598205.5:c.1150G>T | ENSP00000472543.1:p.Gly384Cys | |
| ENST00000599920.5:c.1150G>T | ENSP00000469573.1:p.Gly384Cys | |
| ENST00000601313.5:c.1150G>T | ENSP00000470298.1:p.Gly384Cys | |
| NM_001077186.1:c.1150G>T | NP_001070654.1:p.Gly384Cys | |
| NM_001145809.1:c.1150G>T | NP_001139281.1:p.Gly384Cys | |
| NM_024729.3:c.1126G>T | NP_079005.3:p.Gly376Cys | |
| XM_006723386.2:c.1150G>T | XP_006723449.1:p.Gly384Cys | |
| XM_011527320.1:c.1270G>T | XP_011525622.1:p.Gly424Cys | |
| XM_011527321.1:c.1246G>T | XP_011525623.1:p.Gly416Cys | |
| XM_011527322.1:c.1235-2727G>T | XP_011525624.1:n.1235-2727G>T | |
| XM_011527323.1:c.1150G>T | XP_011525625.1:p.Gly384Cys | |
| XM_006723386.4:c.1150G>T | XP_006723449.1:p.Gly384Cys | |
| XM_011527320.2:c.1270G>T | XP_011525622.1:p.Gly424Cys | |
| XM_011527321.2:c.1246G>T | XP_011525623.1:p.Gly416Cys | |
| XM_011527323.2:c.1150G>T | XP_011525625.1:p.Gly384Cys | |
| XM_024451721.1:c.1126G>T | XP_024307489.1:p.Gly376Cys | |
| NM_001077186.2:c.1150G>T | NP_001070654.1:p.Gly384Cys | |
| NM_001145809.2:c.1150G>T MANE Select | NP_001139281.1:p.Gly384Cys | |
| NM_024729.4:c.1126G>T | NP_079005.3:p.Gly376Cys |