Linked Data
ClinVar Variation Id:
2146485
ClinVar RCV Id:
RCV003074583
dbSNP Id:
rs954370683
gnomAD v2:
19-36339706-C-G
gnomAD v3:
19-35848804-C-G
gnomAD v4:
19-35848804-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35848804C>G , CM000681.2:g.35848804C>G | GRCh38 |
| NC_000019.9:g.36339706C>G , CM000681.1:g.36339706C>G | GRCh37 |
| NC_000019.8:g.41031546C>G | NCBI36 |
| NG_013356.2:g.25484G>C , LRG_693:g.25484G>C | |
| NG_051206.1:g.2170C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.1013-10G>C MANE Select | ENSP00000368190.4:n.1013-10G>C | |
| ENST00000353632.6:c.1013-10G>C | ENSP00000343634.5:n.1013-10G>C | |
| ENST00000378910.9:c.1013-10G>C | ENSP00000368190.4:n.1013-10G>C | |
| ENST00000592132.1:n.20-10G>C | ||
| NM_004646.3:c.1013-10G>C , LRG_693t1:c.1013-10G>C | NP_004637.1:n.1013-10G>C | |
| NM_004646.4:c.1013-10G>C MANE Select | NP_004637.1:n.1013-10G>C |