Linked Data
ClinVar Variation Id:
771392
ClinVar RCV Id:
RCV000950700
dbSNP Id:
rs1378857324
gnomAD v2:
6-24302282-C-A
gnomAD v3:
6-24302054-C-A
gnomAD v4:
6-24302054-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24302054C>A , CM000668.2:g.24302054C>A | GRCh38 |
| NC_000006.11:g.24302282C>A , CM000668.1:g.24302282C>A | GRCh37 |
| NC_000006.10:g.24410261C>A | NCBI36 |
| NG_012829.1:g.60999G>T | |
| NG_012829.2:g.86239G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.349-10G>T MANE Select | ENSP00000367715.3:n.349-10G>T | |
| ENST00000378454.7:c.349-10G>T | ENSP00000367715.3:n.349-10G>T | |
| NM_001195610.1:c.349-10G>T | NP_001182539.1:n.349-10G>T | |
| NM_016356.4:c.349-10G>T | NP_057440.2:n.349-10G>T | |
| NM_016356.5:c.349-10G>T MANE Select | NP_057440.2:n.349-10G>T | |
| NM_001195610.2:c.349-10G>T | NP_001182539.1:n.349-10G>T |