Linked Data
ClinVar Variation Id:
1473965
ClinVar RCV Id:
RCV001969662
dbSNP Id:
rs1217139658
gnomAD v4:
14-87992995-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87992995C>A , CM000676.2:g.87992995C>A | GRCh38 |
| NC_000014.8:g.88459339C>A , CM000676.1:g.88459339C>A | GRCh37 |
| NC_000014.7:g.87529092C>A | NCBI36 |
| NG_011853.2:g.5569G>T | |
| NG_011853.3:g.5569G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.170G>T MANE Select | ENSP00000261304.2:p.Gly57Val | |
| ENST00000261304.6:c.170G>T | ENSP00000261304.2:p.Gly57Val | |
| ENST00000393568.8:c.170G>T | ENSP00000377198.4:p.Gly57Val | |
| ENST00000393569.6:c.117+388G>T | ENSP00000377199.2:n.117+388G>T | |
| ENST00000474294.6:n.160G>T | ||
| ENST00000554372.5:c.170G>T | ENSP00000451884.1:p.Gly57Val | |
| ENST00000556879.5:c.128G>T | ENSP00000452208.1:p.Gly43Val | |
| ENST00000557316.5:c.170G>T | ENSP00000452314.1:p.Gly57Val | |
| ENST00000622264.4:c.160G>T | ||
| NM_000153.3:c.170G>T | NP_000144.2:p.Gly57Val | |
| NM_001201401.1:c.170G>T | NP_001188330.1:p.Gly57Val | |
| NM_001201402.1:c.117+388G>T | NP_001188331.1:n.117+388G>T | |
| NM_000153.4:c.170G>T MANE Select | NP_000144.2:p.Gly57Val | |
| NM_001201401.2:c.170G>T | NP_001188330.1:p.Gly57Val | |
| NM_001201402.2:c.117+388G>T | NP_001188331.1:n.117+388G>T |