Linked Data
ClinVar Variation Id:
328465
ClinVar RCV Id:
RCV000284847
dbSNP Id:
rs886054267
gnomAD v4:
19-17824991-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17824991T>C , CM000681.2:g.17824991T>C | GRCh38 |
| NC_000019.9:g.17935800T>C , CM000681.1:g.17935800T>C | GRCh37 |
| NC_000019.8:g.17796800T>C | NCBI36 |
| NG_007273.1:g.28001A>G , LRG_77:g.28001A>G | |
| NG_012092.1:g.1521A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696967.1:n.4304A>G | ||
| ENST00000696968.1:n.2360A>G | ||
| ENST00000458235.7:c.*1752A>G MANE Select | ENSP00000391676.1:n.*1752A>G | |
| ENST00000458235.5:c.*1752A>G | ENSP00000391676.1:n.*1752A>G | |
| ENST00000527031.5:n.2598A>G | ||
| NM_000215.3:c.*1752A>G , LRG_77t1:c.*1752A>G | NP_000206.2:n.*1752A>G | |
| XM_005259896.2:c.*1752A>G | XP_005259953.1:n.*1752A>G | |
| XM_005259896.3:c.*1752A>G | XP_005259953.1:n.*1752A>G | |
| NM_000215.4:c.*1752A>G MANE Select | NP_000206.2:n.*1752A>G |