Linked Data
ClinVar Variation Id:
1219681
ClinVar RCV Id:
RCV001588770
dbSNP Id:
rs138133289
ExAC:
6:49415540 C / T
gnomAD v2:
6-49415540-C-T
gnomAD v3:
6-49447827-C-T
gnomAD v4:
6-49447827-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49447827C>T , CM000668.2:g.49447827C>T | GRCh38 |
| NC_000006.11:g.49415540C>T , CM000668.1:g.49415540C>T | GRCh37 |
| NC_000006.10:g.49523499C>T | NCBI36 |
| NG_007100.1:g.20313G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.1445-42G>A MANE Select | ENSP00000274813.3:n.1445-42G>A | |
| ENST00000274813.3:c.1445-42G>A | ENSP00000274813.3:n.1445-42G>A | |
| NM_000255.3:c.1445-42G>A | NP_000246.2:n.1445-42G>A | |
| XM_005249143.2:c.1445-42G>A | XP_005249200.1:n.1445-42G>A | |
| XM_005249143.3:c.1445-42G>A | XP_005249200.1:n.1445-42G>A | |
| NM_000255.4:c.1445-42G>A MANE Select | NP_000246.2:n.1445-42G>A |