Linked Data
ClinVar Variation Id:
487347
ClinVar RCV Id:
RCV003479167
dbSNP Id:
rs886037622
gnomAD v3:
19-48965326-C-T
gnomAD v4:
19-48965326-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48965326C>T , CM000681.2:g.48965326C>T | GRCh38 |
| NC_000019.9:g.49468583C>T , CM000681.1:g.49468583C>T | GRCh37 |
| NC_000019.8:g.54160395C>T | NCBI36 |
| NG_008152.1:g.5018C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331825.11:c.-182C>T MANE Select | ENSP00000366525.2:n.-182C>T | |
| ENST00000331825.10:c.-182C>T | ENSP00000366525.2:n.-182C>T | |
| ENST00000622577.2:c.-182C>T | ENSP00000484043.1:n.-182C>T | |
| NM_000146.3:c.-182C>T | NP_000137.2:n.-182C>T | |
| XM_024451447.1:c.329C>T | XP_024307215.1:p.Ala110Val | |
| NM_000146.4:c.-182C>T MANE Select | NP_000137.2:n.-182C>T |