Linked Data
ClinVar Variation Id:
3021611
ClinVar RCV Id:
RCV003880194
dbSNP Id:
rs547387731
gnomAD v2:
12-58159954-C-T
gnomAD v3:
12-57766171-C-T
gnomAD v4:
12-57766171-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57766171C>T , CM000674.2:g.57766171C>T | GRCh38 |
| NC_000012.11:g.58159954C>T , CM000674.1:g.58159954C>T | GRCh37 |
| NC_000012.10:g.56446221C>T | NCBI36 |
| NG_007076.1:g.6023G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546609.2:n.134G>A | ||
| ENST00000713544.1:c.222G>A | ENSP00000518840.1:p.Pro74= | |
| ENST00000713545.1:c.222G>A | ENSP00000518841.1:p.Pro74= | |
| ENST00000228606.9:c.222G>A MANE Select | ENSP00000228606.4:p.Pro74= | |
| ENST00000228606.8:c.222G>A | ENSP00000228606.4:p.Pro74= | |
| ENST00000546496.1:n.50G>A | ||
| ENST00000546609.1:c.134G>A | ||
| ENST00000547344.5:n.276G>A | ||
| ENST00000552186.1:n.341G>A | ||
| NM_000785.3:c.222G>A | NP_000776.1:p.Pro74= | |
| NM_000785.4:c.222G>A MANE Select | NP_000776.1:p.Pro74= |