Linked Data
ClinVar Variation Id:
310325
ClinVar RCV Id:
RCV000405185
dbSNP Id:
rs886049802
gnomAD v2:
12-68553397-G-T
gnomAD v4:
12-68159617-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.68159617G>T , CM000674.2:g.68159617G>T | GRCh38 |
| NC_000012.11:g.68553397G>T , CM000674.1:g.68553397G>T | GRCh37 |
| NC_000012.10:g.66839664G>T | NCBI36 |
| NG_015840.1:g.5125C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229135.4:c.-2C>A MANE Select | ENSP00000229135.3:n.-2C>A | |
| ENST00000229135.3:c.-2C>A | ENSP00000229135.3:n.-2C>A | |
| NM_000619.2:c.-2C>A | NP_000610.2:n.-2C>A | |
| NM_000619.3:c.-2C>A MANE Select | NP_000610.2:n.-2C>A |