Linked Data
ClinVar Variation Id:
55975
ClinVar RCV Id:
RCV000049384
dbSNP Id:
rs386833457
gnomAD v4:
7-107778202-A-C
PubMed:
PMID:9718329
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107778202A>C , CM000669.2:g.107778202A>C | GRCh38 |
| NC_000007.13:g.107418647A>C , CM000669.1:g.107418647A>C | GRCh37 |
| NC_000007.12:g.107205883A>C | NCBI36 |
| NG_008046.1:g.30032T>G , LRG_683:g.30032T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340010.10:c.1487T>G MANE Select | ENSP00000345873.5:p.Leu496Arg | |
| ENST00000340010.9:c.1487T>G | ENSP00000345873.5:p.Leu496Arg | |
| ENST00000379083.7:c.*1278T>G | ENSP00000368375.3:n.*1278T>G | |
| NM_000111.2:c.1487T>G , LRG_683t1:c.1487T>G | NP_000102.1:p.Leu496Arg | |
| XM_011515867.1:c.1487T>G | XP_011514169.1:p.Leu496Arg | |
| NM_000111.3:c.1487T>G MANE Select | NP_000102.1:p.Leu496Arg |