Linked Data
ClinVar Variation Id:
184069
dbSNP Id:
rs766505270
ExAC:
16:68847248 C / T
gnomAD v2:
16-68847248-C-T
gnomAD v4:
16-68813345-C-T
ERepo:
CA187687/MONDO:0100488/007
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68813345C>T , CM000678.2:g.68813345C>T | GRCh38 |
| NC_000016.9:g.68847248C>T , CM000678.1:g.68847248C>T | GRCh37 |
| NC_000016.8:g.67404749C>T | NCBI36 |
| NG_008021.1:g.81054C>T , LRG_301:g.81054C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.1170C>T MANE Select | ENSP00000261769.4:p.Asn390= | |
| ENST00000261769.9:c.1170C>T | ENSP00000261769.4:p.Asn390= | |
| ENST00000422392.6:c.1137+1082C>T | ENSP00000414946.2:n.1137+1082C>T | |
| ENST00000562836.5:n.1241C>T | ||
| ENST00000565810.1:n.214C>T | ||
| ENST00000566510.5:c.1014C>T | ENSP00000458139.1:p.Asn338= | |
| ENST00000566612.5:c.1170C>T | ENSP00000454782.1:p.Asn390= | |
| ENST00000611625.4:c.1170C>T | ENSP00000481063.1:p.Asn390= | |
| ENST00000612417.4:c.1170C>T | ENSP00000478360.1:p.Asn390= | |
| ENST00000621016.4:c.1170C>T | ENSP00000480664.1:p.Asn390= | |
| NM_004360.3:c.1170C>T , LRG_301t1:c.1170C>T | NP_004351.1:p.Asn390= | |
| XM_011523488.1:c.435C>T | XP_011521790.1:p.Asn145= | |
| XM_011523489.1:c.435C>T | XP_011521791.1:p.Asn145= | |
| NM_001317184.1:c.1137+1082C>T | NP_001304113.1:n.1137+1082C>T | |
| NM_001317185.1:c.-446C>T | NP_001304114.1:n.-446C>T | |
| NM_001317186.1:c.-650C>T | NP_001304115.1:n.-650C>T | |
| NM_004360.4:c.1170C>T | NP_004351.1:p.Asn390= | |
| NM_004360.5:c.1170C>T MANE Select | NP_004351.1:p.Asn390= | |
| NM_001317184.2:c.1137+1082C>T | NP_001304113.1:n.1137+1082C>T | |
| NM_001317185.2:c.-446C>T | NP_001304114.1:n.-446C>T | |
| NM_001317186.2:c.-650C>T | NP_001304115.1:n.-650C>T |