Linked Data
ClinVar Variation Id:
183803
dbSNP Id:
rs781317341
ExAC:
16:68849597 C / T
gnomAD v2:
16-68849597-C-T
gnomAD v3:
16-68815694-C-T
gnomAD v4:
16-68815694-C-T
ERepo:
CA186535/MONDO:0100488/007
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68815694C>T , CM000678.2:g.68815694C>T | GRCh38 |
| NC_000016.9:g.68849597C>T , CM000678.1:g.68849597C>T | GRCh37 |
| NC_000016.8:g.67407098C>T | NCBI36 |
| NG_008021.1:g.83403C>T , LRG_301:g.83403C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.1500C>T MANE Select | ENSP00000261769.4:p.Gly500= | |
| ENST00000261769.9:c.1500C>T | ENSP00000261769.4:p.Gly500= | |
| ENST00000422392.6:c.1317C>T | ENSP00000414946.2:p.Gly439= | |
| ENST00000562836.5:n.1571C>T | ||
| ENST00000566510.5:c.*166C>T | ENSP00000458139.1:n.*166C>T | |
| ENST00000566612.5:c.1500C>T | ENSP00000454782.1:p.Gly500= | |
| ENST00000611625.4:c.1563C>T | ENSP00000481063.1:p.Gly521= | |
| ENST00000612417.4:c.1500C>T | ENSP00000478360.1:p.Gly500= | |
| ENST00000621016.4:c.1500C>T | ENSP00000480664.1:p.Gly500= | |
| NM_004360.3:c.1500C>T , LRG_301t1:c.1500C>T | NP_004351.1:p.Gly500= | |
| XM_011523488.1:c.765C>T | XP_011521790.1:p.Gly255= | |
| XM_011523489.1:c.765C>T | XP_011521791.1:p.Gly255= | |
| NM_001317184.1:c.1317C>T | NP_001304113.1:p.Gly439= | |
| NM_001317185.1:c.-49C>T | NP_001304114.1:n.-49C>T | |
| NM_001317186.1:c.-320C>T | NP_001304115.1:n.-320C>T | |
| NM_004360.4:c.1500C>T | NP_004351.1:p.Gly500= | |
| NM_004360.5:c.1500C>T MANE Select | NP_004351.1:p.Gly500= | |
| NM_001317184.2:c.1317C>T | NP_001304113.1:p.Gly439= | |
| NM_001317185.2:c.-49C>T | NP_001304114.1:n.-49C>T | |
| NM_001317186.2:c.-320C>T | NP_001304115.1:n.-320C>T |