Linked Data
ClinVar Variation Id:
1148707
ClinVar RCV Id:
RCV001488669
dbSNP Id:
rs996998931
gnomAD v4:
19-35845808-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35845808G>A , CM000681.2:g.35845808G>A | GRCh38 |
| NC_000019.9:g.36336710G>A , CM000681.1:g.36336710G>A | GRCh37 |
| NC_000019.8:g.41028550G>A | NCBI36 |
| NG_013356.2:g.28480C>T , LRG_693:g.28480C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.1628-10C>T MANE Select | ENSP00000368190.4:n.1628-10C>T | |
| ENST00000353632.6:c.1628-10C>T | ENSP00000343634.5:n.1628-10C>T | |
| ENST00000378910.9:c.1628-10C>T | ENSP00000368190.4:n.1628-10C>T | |
| NM_004646.3:c.1628-10C>T , LRG_693t1:c.1628-10C>T | NP_004637.1:n.1628-10C>T | |
| NM_004646.4:c.1628-10C>T MANE Select | NP_004637.1:n.1628-10C>T |