Linked Data
ClinVar Variation Id:
328468
ClinVar RCV Id:
RCV000304919
dbSNP Id:
rs145985086
gnomAD v2:
19-17936029-G-A
gnomAD v3:
19-17825220-G-A
gnomAD v4:
19-17825220-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17825220G>A , CM000681.2:g.17825220G>A | GRCh38 |
| NC_000019.9:g.17936029G>A , CM000681.1:g.17936029G>A | GRCh37 |
| NC_000019.8:g.17797029G>A | NCBI36 |
| NG_007273.1:g.27772C>T , LRG_77:g.27772C>T | |
| NG_012092.1:g.1292C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696967.1:n.4075C>T | ||
| ENST00000696968.1:n.2131C>T | ||
| ENST00000458235.7:c.*1523C>T MANE Select | ENSP00000391676.1:n.*1523C>T | |
| ENST00000458235.5:c.*1523C>T | ENSP00000391676.1:n.*1523C>T | |
| ENST00000527031.5:n.2369C>T | ||
| NM_000215.3:c.*1523C>T , LRG_77t1:c.*1523C>T | NP_000206.2:n.*1523C>T | |
| XM_005259896.2:c.*1523C>T | XP_005259953.1:n.*1523C>T | |
| XM_005259896.3:c.*1523C>T | XP_005259953.1:n.*1523C>T | |
| NM_000215.4:c.*1523C>T MANE Select | NP_000206.2:n.*1523C>T |