Linked Data
ClinVar Variation Id:
56425
ClinVar RCV Id:
RCV000049838
dbSNP Id:
rs386833868
gnomAD v2:
19-36339583-G-C
gnomAD v4:
19-35848681-G-C
PubMed:
PMID:9915943
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35848681G>C , CM000681.2:g.35848681G>C | GRCh38 |
| NC_000019.9:g.36339583G>C , CM000681.1:g.36339583G>C | GRCh37 |
| NC_000019.8:g.41031423G>C | NCBI36 |
| NG_013356.2:g.25607C>G , LRG_693:g.25607C>G | |
| NG_051206.1:g.2047G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.1126C>G MANE Select | ENSP00000368190.4:p.Leu376Val | |
| ENST00000353632.6:c.1126C>G | ENSP00000343634.5:p.Leu376Val | |
| ENST00000378910.9:c.1126C>G | ENSP00000368190.4:p.Leu376Val | |
| ENST00000592132.1:n.133C>G | ||
| NM_004646.3:c.1126C>G , LRG_693t1:c.1126C>G | NP_004637.1:p.Leu376Val | |
| NM_004646.4:c.1126C>G MANE Select | NP_004637.1:p.Leu376Val |