Linked Data
ClinVar Variation Id:
1143048
ClinVar RCV Id:
RCV001481080
dbSNP Id:
rs1354790062
gnomAD v2:
19-36339701-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35848799A>G , CM000681.2:g.35848799A>G | GRCh38 |
| NC_000019.9:g.36339701A>G , CM000681.1:g.36339701A>G | GRCh37 |
| NC_000019.8:g.41031541A>G | NCBI36 |
| NG_013356.2:g.25489T>C , LRG_693:g.25489T>C | |
| NG_051206.1:g.2165A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.1013-5T>C MANE Select | ENSP00000368190.4:n.1013-5T>C | |
| ENST00000353632.6:c.1013-5T>C | ENSP00000343634.5:n.1013-5T>C | |
| ENST00000378910.9:c.1013-5T>C | ENSP00000368190.4:n.1013-5T>C | |
| ENST00000592132.1:n.20-5T>C | ||
| NM_004646.3:c.1013-5T>C , LRG_693t1:c.1013-5T>C | NP_004637.1:n.1013-5T>C | |
| NM_004646.4:c.1013-5T>C MANE Select | NP_004637.1:n.1013-5T>C |