Linked Data
ClinVar Variation Id:
3086743
ClinVar RCV Id:
RCV004382121
dbSNP Id:
rs2032897566
gnomAD v3:
16-67192241-G-T
gnomAD v4:
16-67192241-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67192241G>T , CM000678.2:g.67192241G>T | GRCh38 |
| NC_000016.9:g.67226144G>T , CM000678.1:g.67226144G>T | GRCh37 |
| NC_000016.8:g.65783645G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379378.8:c.14G>T MANE Select | ENSP00000368686.3:p.Gly5Val | |
| ENST00000379378.7:c.14G>T | ENSP00000368686.3:p.Gly5Val | |
| ENST00000561904.5:n.27G>T | ||
| ENST00000563238.5:n.29G>T | ||
| ENST00000565849.5:c.14G>T | ENSP00000454477.1:p.Gly5Val | |
| ENST00000567007.5:n.57G>T | ||
| ENST00000568485.1:n.68G>T | ||
| ENST00000568839.5:c.14G>T | ENSP00000458082.1:p.Gly5Val | |
| ENST00000569573.1:c.14G>T | ENSP00000457239.1:p.Gly5Val | |
| NM_001950.3:c.14G>T | NP_001941.2:p.Gly5Val | |
| XR_002957786.1:n.82G>T | ||
| NM_001950.4:c.14G>T MANE Select | NP_001941.2:p.Gly5Val |