Linked Data
ClinVar Variation Id:
184577
dbSNP Id:
rs761852331
gnomAD v3:
16-68829779-T-C
gnomAD v4:
16-68829779-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68829779T>C , CM000678.2:g.68829779T>C | GRCh38 |
| NC_000016.9:g.68863682T>C , CM000678.1:g.68863682T>C | GRCh37 |
| NC_000016.8:g.67421183T>C | NCBI36 |
| NG_008021.1:g.97488T>C , LRG_301:g.97488T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.2421T>C MANE Select | ENSP00000261769.4:p.Ile807= | |
| ENST00000261769.9:c.2421T>C | ENSP00000261769.4:p.Ile807= | |
| ENST00000422392.6:c.2238T>C | ENSP00000414946.2:p.Ile746= | |
| ENST00000562118.1:n.639T>C | ||
| ENST00000562836.5:n.2492T>C | ||
| ENST00000566510.5:c.*1087T>C | ENSP00000458139.1:n.*1087T>C | |
| ENST00000566612.5:c.*661T>C | ENSP00000454782.1:n.*661T>C | |
| ENST00000611625.4:c.2484T>C | ENSP00000481063.1:p.Ile828= | |
| ENST00000612417.4:c.1853+3225T>C | ENSP00000478360.1:n.1853+3225T>C | |
| ENST00000621016.4:c.1866-4424T>C | ENSP00000480664.1:n.1866-4424T>C | |
| NM_004360.3:c.2421T>C , LRG_301t1:c.2421T>C | NP_004351.1:p.Ile807= | |
| XM_011523488.1:c.1686T>C | XP_011521790.1:p.Ile562= | |
| XM_011523489.1:c.1686T>C | XP_011521791.1:p.Ile562= | |
| NM_001317184.1:c.2238T>C | NP_001304113.1:p.Ile746= | |
| NM_001317185.1:c.873T>C | NP_001304114.1:p.Ile291= | |
| NM_001317186.1:c.456T>C | NP_001304115.1:p.Ile152= | |
| NM_004360.4:c.2421T>C | NP_004351.1:p.Ile807= | |
| NM_004360.5:c.2421T>C MANE Select | NP_004351.1:p.Ile807= | |
| NM_001317184.2:c.2238T>C | NP_001304113.1:p.Ile746= | |
| NM_001317185.2:c.873T>C | NP_001304114.1:p.Ile291= | |
| NM_001317186.2:c.456T>C | NP_001304115.1:p.Ile152= |