Linked Data
ClinVar Variation Id:
1140057
ClinVar RCV Id:
RCV001477009
dbSNP Id:
rs772120895
ExAC:
19:36317551 A / T
gnomAD v2:
19-36317551-A-T
gnomAD v4:
19-35826649-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35826649A>T , CM000681.2:g.35826649A>T | GRCh38 |
| NC_000019.9:g.36317551A>T , CM000681.1:g.36317551A>T | GRCh37 |
| NC_000019.8:g.41009391A>T | NCBI36 |
| NG_013356.2:g.47639T>A , LRG_693:g.47639T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.3595-4T>A MANE Select | ENSP00000368190.4:n.3595-4T>A | |
| ENST00000353632.6:c.3475-4T>A | ENSP00000343634.5:n.3475-4T>A | |
| ENST00000378910.9:c.3595-4T>A | ENSP00000368190.4:n.3595-4T>A | |
| NM_004646.3:c.3595-4T>A , LRG_693t1:c.3595-4T>A | NP_004637.1:n.3595-4T>A | |
| NM_004646.4:c.3595-4T>A MANE Select | NP_004637.1:n.3595-4T>A |