Linked Data
ClinVar Variation Id:
189146
ClinVar RCV Id:
RCV000169569
dbSNP Id:
rs786204729
gnomAD v2:
19-36322274-C-T
gnomAD v4:
19-35831372-C-T
COSMIC:
COSM3198914
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35831372C>T , CM000681.2:g.35831372C>T | GRCh38 |
| NC_000019.9:g.36322274C>T , CM000681.1:g.36322274C>T | GRCh37 |
| NC_000019.8:g.41014114C>T | NCBI36 |
| NG_013356.2:g.42916G>A , LRG_693:g.42916G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.3312-1G>A MANE Select | ENSP00000368190.4:n.3312-1G>A | |
| ENST00000353632.6:c.3192-1G>A | ENSP00000343634.5:n.3192-1G>A | |
| ENST00000378910.9:c.3312-1G>A | ENSP00000368190.4:n.3312-1G>A | |
| NM_004646.3:c.3312-1G>A , LRG_693t1:c.3312-1G>A | NP_004637.1:n.3312-1G>A | |
| NM_004646.4:c.3312-1G>A MANE Select | NP_004637.1:n.3312-1G>A |