Linked Data
ClinVar Variation Id:
328476
ClinVar RCV Id:
RCV000276796
dbSNP Id:
rs373917722
gnomAD v2:
19-17936514-T-C
gnomAD v3:
19-17825705-T-C
gnomAD v4:
19-17825705-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17825705T>C , CM000681.2:g.17825705T>C | GRCh38 |
| NC_000019.9:g.17936514T>C , CM000681.1:g.17936514T>C | GRCh37 |
| NC_000019.8:g.17797514T>C | NCBI36 |
| NG_007273.1:g.27287A>G , LRG_77:g.27287A>G | |
| NG_012092.1:g.807A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696967.1:n.3590A>G | ||
| ENST00000696968.1:n.1646A>G | ||
| ENST00000458235.7:c.*1038A>G MANE Select | ENSP00000391676.1:n.*1038A>G | |
| ENST00000458235.5:c.*1038A>G | ENSP00000391676.1:n.*1038A>G | |
| ENST00000527031.5:n.2279-395A>G | ||
| NM_000215.3:c.*1038A>G , LRG_77t1:c.*1038A>G | NP_000206.2:n.*1038A>G | |
| XM_005259896.2:c.*1038A>G | XP_005259953.1:n.*1038A>G | |
| XM_005259896.3:c.*1038A>G | XP_005259953.1:n.*1038A>G | |
| NM_000215.4:c.*1038A>G MANE Select | NP_000206.2:n.*1038A>G |