Linked Data
ClinVar Variation Id:
567993
dbSNP Id:
rs778581202
ExAC:
16:68863585 G / T
gnomAD v2:
16-68863585-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68829682G>T , CM000678.2:g.68829682G>T | GRCh38 |
| NC_000016.9:g.68863585G>T , CM000678.1:g.68863585G>T | GRCh37 |
| NC_000016.8:g.67421086G>T | NCBI36 |
| NG_008021.1:g.97391G>T , LRG_301:g.97391G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.2324G>T MANE Select | ENSP00000261769.4:p.Gly775Val | |
| ENST00000261769.9:c.2324G>T | ENSP00000261769.4:p.Gly775Val | |
| ENST00000422392.6:c.2141G>T | ENSP00000414946.2:p.Gly714Val | |
| ENST00000562118.1:n.542G>T | ||
| ENST00000562836.5:n.2395G>T | ||
| ENST00000566510.5:c.*990G>T | ENSP00000458139.1:n.*990G>T | |
| ENST00000566612.5:c.*564G>T | ENSP00000454782.1:n.*564G>T | |
| ENST00000611625.4:c.2387G>T | ENSP00000481063.1:p.Gly796Val | |
| ENST00000612417.4:c.1853+3128G>T | ENSP00000478360.1:n.1853+3128G>T | |
| ENST00000621016.4:c.1866-4521G>T | ENSP00000480664.1:n.1866-4521G>T | |
| NM_004360.3:c.2324G>T , LRG_301t1:c.2324G>T | NP_004351.1:p.Gly775Val | |
| XM_011523488.1:c.1589G>T | XP_011521790.1:p.Gly530Val | |
| XM_011523489.1:c.1589G>T | XP_011521791.1:p.Gly530Val | |
| NM_001317184.1:c.2141G>T | NP_001304113.1:p.Gly714Val | |
| NM_001317185.1:c.776G>T | NP_001304114.1:p.Gly259Val | |
| NM_001317186.1:c.359G>T | NP_001304115.1:p.Gly120Val | |
| NM_004360.4:c.2324G>T | NP_004351.1:p.Gly775Val | |
| NM_004360.5:c.2324G>T MANE Select | NP_004351.1:p.Gly775Val | |
| NM_001317184.2:c.2141G>T | NP_001304113.1:p.Gly714Val | |
| NM_001317185.2:c.776G>T | NP_001304114.1:p.Gly259Val | |
| NM_001317186.2:c.359G>T | NP_001304115.1:p.Gly120Val |