Linked Data
ClinVar Variation Id:
1976947
ClinVar RCV Id:
RCV002736389
dbSNP Id:
rs775511816
ExAC:
9:101340205 C / T
gnomAD v2:
9-101340205-C-T
gnomAD v3:
9-98577923-C-T
gnomAD v4:
9-98577923-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98577923C>T , CM000671.2:g.98577923C>T | GRCh38 |
| NC_000009.11:g.101340205C>T , CM000671.1:g.101340205C>T | GRCh37 |
| NC_000009.10:g.100380026C>T | NCBI36 |
| NG_016426.1:g.136275G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.459+12G>A MANE Select | ENSP00000259455.2:n.459+12G>A | |
| ENST00000637410.1:n.237+12G>A | ||
| ENST00000637717.1:c.75+12G>A | ENSP00000490789.1:n.75+12G>A | |
| ENST00000259455.3:c.459+12G>A | ENSP00000259455.2:n.459+12G>A | |
| ENST00000634227.1:n.233+12G>A | ||
| NM_005458.7:c.459+12G>A | NP_005449.5:n.459+12G>A | |
| NM_005458.8:c.459+12G>A MANE Select | NP_005449.5:n.459+12G>A |