Linked Data
ClinVar Variation Id:
539066
ClinVar RCV Id:
RCV000648708
dbSNP Id:
rs16886397
gnomAD v2:
5-56134276-A-G
gnomAD v3:
5-56838449-A-G
gnomAD v4:
5-56838449-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56838449A>G , CM000667.2:g.56838449A>G | GRCh38 |
| NC_000005.9:g.56134276A>G , CM000667.1:g.56134276A>G | GRCh37 |
| NC_000005.8:g.56170033A>G | NCBI36 |
| NG_031884.1:g.28377A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000399503.4:c.483-18151A>G MANE Select | ENSP00000382423.3:n.483-18151A>G | |
| ENST00000399503.3:c.483-18151A>G | ENSP00000382423.3:n.483-18151A>G | |
| NM_005921.1:c.483-18151A>G | NP_005912.1:n.483-18151A>G | |
| XM_005248519.3:c.104+17633A>G | XP_005248576.2:n.104+17633A>G | |
| XM_011543406.1:c.228-18151A>G | XP_011541708.1:n.228-18151A>G | |
| XM_011543407.1:c.483-18151A>G | XP_011541709.1:n.483-18151A>G | |
| XM_011543408.1:c.483-18151A>G | XP_011541710.1:n.483-18151A>G | |
| XM_017009484.1:c.71+17633A>G | XP_016864973.1:n.71+17633A>G | |
| XM_017009485.1:c.-7-18151A>G | XP_016864974.1:n.-7-18151A>G | |
| XR_001742068.2:n.514-18151A>G | ||
| NM_005921.2:c.483-18151A>G MANE Select | NP_005912.1:n.483-18151A>G |