Linked Data
ClinVar Variation Id:
56462
ClinVar RCV Id:
RCV000049875
dbSNP Id:
rs386833902
gnomAD v4:
19-35844189-A-C
PubMed:
PMID:18503012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35844189A>C , CM000681.2:g.35844189A>C | GRCh38 |
| NC_000019.9:g.36335091A>C , CM000681.1:g.36335091A>C | GRCh37 |
| NC_000019.8:g.41026931A>C | NCBI36 |
| NG_013356.2:g.30099T>G , LRG_693:g.30099T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.2126T>G MANE Select | ENSP00000368190.4:p.Val709Gly | |
| ENST00000353632.6:c.2126T>G | ENSP00000343634.5:p.Val709Gly | |
| ENST00000378910.9:c.2126T>G | ENSP00000368190.4:p.Val709Gly | |
| ENST00000585400.1:n.308T>G | ||
| NM_004646.3:c.2126T>G , LRG_693t1:c.2126T>G | NP_004637.1:p.Val709Gly | |
| NM_004646.4:c.2126T>G MANE Select | NP_004637.1:p.Val709Gly |