Linked Data
ClinVar Variation Id:
328847
ClinVar RCV Id:
RCV000293750
dbSNP Id:
rs144206206
gnomAD v2:
19-36316807-C-T
gnomAD v3:
19-35825905-C-T
gnomAD v4:
19-35825905-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35825905C>T , CM000681.2:g.35825905C>T | GRCh38 |
| NC_000019.9:g.36316807C>T , CM000681.1:g.36316807C>T | GRCh37 |
| NC_000019.8:g.41008647C>T | NCBI36 |
| NG_013356.2:g.48383G>A , LRG_693:g.48383G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.*609G>A MANE Select | ENSP00000368190.4:n.*609G>A | |
| NM_004646.3:c.*609G>A , LRG_693t1:c.*609G>A | NP_004637.1:n.*609G>A | |
| NM_004646.4:c.*609G>A MANE Select | NP_004637.1:n.*609G>A |