Linked Data
ClinVar Variation Id:
1658597
ClinVar RCV Id:
RCV002174219
dbSNP Id:
rs1453796788
gnomAD v2:
3-52360745-G-T
gnomAD v3:
3-52326729-G-T
gnomAD v4:
3-52326729-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52326729G>T , CM000665.2:g.52326729G>T | GRCh38 |
| NC_000003.11:g.52360745G>T , CM000665.1:g.52360745G>T | GRCh37 |
| NC_000003.10:g.52335785G>T | NCBI36 |
| NG_052911.1:g.15411G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420323.7:c.582-6G>T MANE Select | ENSP00000401514.2:n.582-6G>T | |
| ENST00000420323.6:c.582-6G>T | ENSP00000401514.2:n.582-6G>T | |
| ENST00000486752.5:n.843-6G>T | ||
| ENST00000497875.1:n.747-6G>T | ||
| NM_015512.4:c.582-6G>T | NP_056327.4:n.582-6G>T | |
| XM_011533577.1:c.582-6G>T | XP_011531879.1:n.582-6G>T | |
| XM_017006129.1:c.582-6G>T | XP_016861618.1:n.582-6G>T | |
| XM_017006130.1:c.582-6G>T | XP_016861619.1:n.582-6G>T | |
| XM_017006131.1:c.582-6G>T | XP_016861620.1:n.582-6G>T | |
| XM_017006132.1:c.582-6G>T | XP_016861621.1:n.582-6G>T | |
| XM_017006133.1:c.582-6G>T | XP_016861622.1:n.582-6G>T | |
| XR_001740098.1:n.3731-6G>T | ||
| XR_001740099.1:n.3731-6G>T | ||
| NM_015512.5:c.582-6G>T MANE Select | NP_056327.4:n.582-6G>T |