Linked Data
ClinVar Variation Id:
3008144
ClinVar RCV Id:
RCV003866807
dbSNP Id:
rs1481395125
gnomAD v2:
7-107408066-A-G
gnomAD v4:
7-107767621-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107767621A>G , CM000669.2:g.107767621A>G | GRCh38 |
| NC_000007.13:g.107408066A>G , CM000669.1:g.107408066A>G | GRCh37 |
| NC_000007.12:g.107195302A>G | NCBI36 |
| NG_008046.1:g.40613T>C , LRG_683:g.40613T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340010.10:c.2229T>C MANE Select | ENSP00000345873.5:p.Phe743= | |
| ENST00000340010.9:c.2229T>C | ENSP00000345873.5:p.Phe743= | |
| ENST00000379083.7:c.*1786T>C | ENSP00000368375.3:n.*1786T>C | |
| NM_000111.2:c.2229T>C , LRG_683t1:c.2229T>C | NP_000102.1:p.Phe743= | |
| XM_011515867.1:c.2229T>C | XP_011514169.1:p.Phe743= | |
| NM_000111.3:c.2229T>C MANE Select | NP_000102.1:p.Phe743= |