Linked Data
ClinVar Variation Id:
127931
ClinVar RCV Id:
RCV003149807
dbSNP Id:
rs200673941
ExAC:
16:68842578 C / T
gnomAD v2:
16-68842578-C-T
gnomAD v3:
16-68808675-C-T
gnomAD v4:
16-68808675-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68808675C>T , CM000678.2:g.68808675C>T | GRCh38 |
| NC_000016.9:g.68842578C>T , CM000678.1:g.68842578C>T | GRCh37 |
| NC_000016.8:g.67400079C>T | NCBI36 |
| NG_008021.1:g.76384C>T , LRG_301:g.76384C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261769.10:c.532-18C>T MANE Select | ENSP00000261769.4:n.532-18C>T | |
| ENST00000261769.9:c.532-18C>T | ENSP00000261769.4:n.532-18C>T | |
| ENST00000422392.6:c.532-18C>T | ENSP00000414946.2:n.532-18C>T | |
| ENST00000561751.1:c.299-18C>T | ||
| ENST00000562836.5:n.603-18C>T | ||
| ENST00000564676.5:n.814-18C>T | ||
| ENST00000564745.1:n.527-18C>T | ||
| ENST00000566510.5:c.531+108C>T | ENSP00000458139.1:n.531+108C>T | |
| ENST00000566612.5:c.532-18C>T | ENSP00000454782.1:n.532-18C>T | |
| ENST00000567320.1:n.42-18C>T | ||
| ENST00000611625.4:c.532-18C>T | ENSP00000481063.1:n.532-18C>T | |
| ENST00000612417.4:c.532-18C>T | ENSP00000478360.1:n.532-18C>T | |
| ENST00000621016.4:c.532-18C>T | ENSP00000480664.1:n.532-18C>T | |
| NM_004360.3:c.532-18C>T , LRG_301t1:c.532-18C>T | NP_004351.1:n.532-18C>T | |
| XM_011523488.1:c.-204-18C>T | XP_011521790.1:n.-204-18C>T | |
| XM_011523489.1:c.-204-18C>T | XP_011521791.1:n.-204-18C>T | |
| NM_001317184.1:c.532-18C>T | NP_001304113.1:n.532-18C>T | |
| NM_001317185.1:c.-1084-18C>T | NP_001304114.1:n.-1084-18C>T | |
| NM_001317186.1:c.-1288-18C>T | NP_001304115.1:n.-1288-18C>T | |
| NM_004360.4:c.532-18C>T | NP_004351.1:n.532-18C>T | |
| NM_004360.5:c.532-18C>T MANE Select | NP_004351.1:n.532-18C>T | |
| NM_001317184.2:c.532-18C>T | NP_001304113.1:n.532-18C>T | |
| NM_001317185.2:c.-1084-18C>T | NP_001304114.1:n.-1084-18C>T | |
| NM_001317186.2:c.-1288-18C>T | NP_001304115.1:n.-1288-18C>T |