Linked Data
ClinVar Variation Id:
3050827
ClinVar RCV Id:
RCV003956958
dbSNP Id:
rs754813514
ExAC:
17:39768512 G / A
gnomAD v2:
17-39768512-G-A
gnomAD v3:
17-41612260-G-A
gnomAD v4:
17-41612260-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612260G>A , CM000679.2:g.41612260G>A | GRCh38 |
| NC_000017.10:g.39768512G>A , CM000679.1:g.39768512G>A | GRCh37 |
| NC_000017.9:g.37022038G>A | NCBI36 |
| NG_008301.1:g.5568C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.429C>T MANE Select | ENSP00000301653.3:p.Ala143= | |
| ENST00000301653.8:c.429C>T | ENSP00000301653.3:p.Ala143= | |
| ENST00000588319.1:n.506C>T | ||
| ENST00000593067.1:c.-286C>T | ENSP00000467124.1:n.-286C>T | |
| NM_005557.3:c.429C>T | NP_005548.2:p.Ala143= | |
| NM_005557.4:c.429C>T MANE Select | NP_005548.2:p.Ala143= |