Linked Data
ClinVar Variation Id:
3107175
ClinVar RCV Id:
RCV004404529
dbSNP Id:
rs142169766
ExAC:
1:119964543 G / T
gnomAD v2:
1-119964543-G-T
gnomAD v3:
1-119421920-G-T
gnomAD v4:
1-119421920-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119421920G>T , CM000663.2:g.119421920G>T | GRCh38 |
| NC_000001.10:g.119964543G>T , CM000663.1:g.119964543G>T | GRCh37 |
| NC_000001.9:g.119766066G>T | NCBI36 |
| NG_013349.1:g.11990G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369416.4:c.419G>T MANE Select | ENSP00000358424.3:p.Gly140Val | |
| ENST00000369416.3:c.419G>T | ENSP00000358424.3:p.Gly140Val | |
| ENST00000433745.5:c.419G>T | ENSP00000388292.1:p.Gly140Val | |
| ENST00000448448.2:n.363G>T | ||
| ENST00000543831.5:c.419G>T | ENSP00000445122.1:p.Gly140Val | |
| NM_000198.3:c.419G>T | NP_000189.1:p.Gly140Val | |
| NM_001166120.1:c.419G>T | NP_001159592.1:p.Gly140Val | |
| NM_000198.4:c.419G>T MANE Select | NP_000189.1:p.Gly140Val | |
| NM_001166120.2:c.419G>T | NP_001159592.1:p.Gly140Val |