Linked Data
ClinVar Variation Id:
183842
ClinVar RCV Id:
RCV000162673
RCV000195422
RCV000427136
RCV001798564
RCV003328246
RCV003422055
RCV003937482
dbSNP Id:
rs149450874
ExAC:
16:68867204 G / A
gnomAD v2:
16-68867204-G-A
gnomAD v3:
16-68833301-G-A
gnomAD v4:
16-68833301-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68833301G>A , CM000678.2:g.68833301G>A | GRCh38 |
| NC_000016.9:g.68867204G>A , CM000678.1:g.68867204G>A | GRCh37 |
| NC_000016.8:g.67424705G>A | NCBI36 |
| NG_008021.1:g.101010G>A , LRG_301:g.101010G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.2451G>A MANE Select | ENSP00000261769.4:p.Ala817= | |
| ENST00000261769.9:c.2451G>A | ENSP00000261769.4:p.Ala817= | |
| ENST00000422392.6:c.2268G>A | ENSP00000414946.2:p.Ala756= | |
| ENST00000562118.1:n.669G>A | ||
| ENST00000562836.5:n.2522G>A | ||
| ENST00000566510.5:c.*1117G>A | ENSP00000458139.1:n.*1117G>A | |
| ENST00000566612.5:c.*691G>A | ENSP00000454782.1:n.*691G>A | |
| ENST00000611625.4:c.2514G>A | ENSP00000481063.1:p.Ala838= | |
| ENST00000612417.4:c.1854-890G>A | ENSP00000478360.1:n.1854-890G>A | |
| ENST00000621016.4:c.1866-902G>A | ENSP00000480664.1:n.1866-902G>A | |
| NM_004360.3:c.2451G>A , LRG_301t1:c.2451G>A | NP_004351.1:p.Ala817= | |
| XM_011523488.1:c.1716G>A | XP_011521790.1:p.Ala572= | |
| XM_011523489.1:c.1716G>A | XP_011521791.1:p.Ala572= | |
| NM_001317184.1:c.2268G>A | NP_001304113.1:p.Ala756= | |
| NM_001317185.1:c.903G>A | NP_001304114.1:p.Ala301= | |
| NM_001317186.1:c.486G>A | NP_001304115.1:p.Ala162= | |
| NM_004360.4:c.2451G>A | NP_004351.1:p.Ala817= | |
| NM_004360.5:c.2451G>A MANE Select | NP_004351.1:p.Ala817= | |
| NM_001317184.2:c.2268G>A | NP_001304113.1:p.Ala756= | |
| NM_001317185.2:c.903G>A | NP_001304114.1:p.Ala301= | |
| NM_001317186.2:c.486G>A | NP_001304115.1:p.Ala162= |