Linked Data
ClinVar Variation Id:
2098962
ClinVar RCV Id:
RCV003021480
dbSNP Id:
rs748893560
ExAC:
3:119101264 C / A
gnomAD v2:
3-119101264-C-A
gnomAD v4:
3-119382417-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119382417C>A , CM000665.2:g.119382417C>A | GRCh38 |
| NC_000003.11:g.119101264C>A , CM000665.1:g.119101264C>A | GRCh37 |
| NC_000003.10:g.120583954C>A | NCBI36 |
| NG_007665.2:g.93045C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.539+18C>A MANE Select | ENSP00000264245.4:n.539+18C>A | |
| ENST00000264245.8:c.539+18C>A | ENSP00000264245.4:n.539+18C>A | |
| ENST00000482743.1:c.452+18C>A | ENSP00000418429.1:n.452+18C>A | |
| NM_020754.3:c.539+18C>A | NP_065805.2:n.539+18C>A | |
| XM_005247671.3:c.446+18C>A | XP_005247728.1:n.446+18C>A | |
| XM_006713714.2:c.539+18C>A | XP_006713777.1:n.539+18C>A | |
| XM_006713714.3:c.539+18C>A | XP_006713777.1:n.539+18C>A | |
| XM_017006955.1:c.47+18C>A | XP_016862444.1:n.47+18C>A | |
| NM_020754.4:c.539+18C>A MANE Select | NP_065805.2:n.539+18C>A |