Linked Data
ClinVar Variation Id:
1286409
ClinVar RCV Id:
RCV001710191
dbSNP Id:
rs1131873
ExAC:
1:226019653 G / A
gnomAD v2:
1-226019653-G-A
gnomAD v3:
1-225831952-G-A
gnomAD v4:
1-225831952-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.225831952G>A , CM000663.2:g.225831952G>A | GRCh38 |
| NC_000001.10:g.226019653G>A , CM000663.1:g.226019653G>A | GRCh37 |
| NC_000001.9:g.224086276G>A | NCBI36 |
| NG_009776.1:g.26857G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272167.10:c.357G>A MANE Select | ENSP00000272167.5:p.Lys119= | |
| ENST00000272167.9:c.357G>A | ENSP00000272167.5:p.Lys119= | |
| ENST00000366837.5:c.357G>A | ENSP00000355802.4:p.Lys119= | |
| ENST00000445856.5:c.357G>A | ENSP00000398491.1:p.Lys119= | |
| ENST00000448202.5:c.357G>A | ENSP00000408469.1:p.Lys119= | |
| ENST00000467015.1:n.244G>A | ||
| ENST00000614058.4:c.357G>A | ENSP00000480004.1:p.Lys119= | |
| NM_000120.3:c.357G>A | NP_000111.1:p.Lys119= | |
| NM_001136018.3:c.357G>A | NP_001129490.1:p.Lys119= | |
| NM_001291163.1:c.357G>A | NP_001278092.1:p.Lys119= | |
| NM_000120.4:c.357G>A | NP_000111.1:p.Lys119= | |
| NM_001136018.4:c.357G>A MANE Select | NP_001129490.1:p.Lys119= | |
| NM_001291163.2:c.357G>A | NP_001278092.1:p.Lys119= | |
| NM_001378426.1:c.357G>A | NP_001365355.1:p.Lys119= | |
| NM_001378427.1:c.357G>A | NP_001365356.1:p.Lys119= | |
| NM_001378428.1:c.330G>A | NP_001365357.1:p.Lys110= | |
| NM_001378429.1:c.357G>A | NP_001365358.1:p.Lys119= | |
| NM_001378430.1:c.357G>A | NP_001365359.1:p.Lys119= | |
| NM_001378431.1:c.357G>A | NP_001365360.1:p.Lys119= | |
| NM_001378432.1:c.357G>A | NP_001365361.1:p.Lys119= | |
| NR_165624.1:n.369+39G>A | ||
| NR_165625.1:n.408G>A | ||
| NR_165626.1:n.854G>A | ||
| NR_165627.1:n.553G>A |