Linked Data
ClinVar Variation Id:
2908246
ClinVar RCV Id:
RCV003729676
dbSNP Id:
rs1823782445
gnomAD v3:
8-86668185-A-T
gnomAD v4:
8-86668185-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86668185A>T , CM000670.2:g.86668185A>T | GRCh38 |
| NC_000008.10:g.87680413A>T , CM000670.1:g.87680413A>T | GRCh37 |
| NC_000008.9:g.87749529A>T | NCBI36 |
| NG_016980.1:g.80491T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.494-17T>A MANE Select | ENSP00000316605.5:n.494-17T>A | |
| ENST00000680314.1:n.255-17T>A | ||
| ENST00000681746.1:c.494-17T>A | ENSP00000505959.1:n.494-17T>A | |
| ENST00000320005.5:c.494-17T>A | ENSP00000316605.5:n.494-17T>A | |
| NM_019098.4:c.494-17T>A | NP_061971.3:n.494-17T>A | |
| XM_011517138.1:c.80-17T>A | XP_011515440.1:n.80-17T>A | |
| XM_011517138.2:c.80-17T>A | XP_011515440.1:n.80-17T>A | |
| NM_019098.5:c.494-17T>A MANE Select | NP_061971.3:n.494-17T>A |