Linked Data
ClinVar Variation Id:
2761538
ClinVar RCV Id:
RCV003567669
dbSNP Id:
rs80358219
ExAC:
1:119964548 G / T
gnomAD v2:
1-119964548-G-T
gnomAD v3:
1-119421925-G-T
gnomAD v4:
1-119421925-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119421925G>T , CM000663.2:g.119421925G>T | GRCh38 |
| NC_000001.10:g.119964548G>T , CM000663.1:g.119964548G>T | GRCh37 |
| NC_000001.9:g.119766071G>T | NCBI36 |
| NG_013349.1:g.11995G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369416.4:c.424G>T MANE Select | ENSP00000358424.3:p.Glu142Ter | |
| ENST00000369416.3:c.424G>T | ENSP00000358424.3:p.Glu142Ter | |
| ENST00000433745.5:c.424G>T | ENSP00000388292.1:p.Glu142Ter | |
| ENST00000448448.2:n.368G>T | ||
| ENST00000543831.5:c.424G>T | ENSP00000445122.1:p.Glu142Ter | |
| NM_000198.3:c.424G>T | NP_000189.1:p.Glu142Ter | |
| NM_001166120.1:c.424G>T | NP_001159592.1:p.Glu142Ter | |
| NM_000198.4:c.424G>T MANE Select | NP_000189.1:p.Glu142Ter | |
| NM_001166120.2:c.424G>T | NP_001159592.1:p.Glu142Ter |