Linked Data
ClinVar Variation Id:
501589
ClinVar RCV Id:
RCV000595913
dbSNP Id:
rs780626619
ExAC:
7:107350636 T / G
gnomAD v2:
7-107350636-T-G
gnomAD v3:
7-107710191-T-G
gnomAD v4:
7-107710191-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107710191T>G , CM000669.2:g.107710191T>G | GRCh38 |
| NC_000007.13:g.107350636T>G , CM000669.1:g.107350636T>G | GRCh37 |
| NC_000007.12:g.107137872T>G | NCBI36 |
| NG_008489.1:g.54557T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644269.2:c.2227T>G MANE Select | ENSP00000494017.1:p.Leu743Val | |
| ENST00000644846.1:c.883T>G | ||
| ENST00000265715.7:c.2227T>G | ENSP00000265715.3:p.Leu743Val | |
| ENST00000492030.2:n.413T>G | ||
| NM_000441.1:c.2227T>G | NP_000432.1:p.Leu743Val | |
| XM_005250425.1:c.2227T>G | XP_005250482.1:p.Leu743Val | |
| XM_005250425.2:c.2227T>G | XP_005250482.1:p.Leu743Val | |
| XM_017012318.1:c.2149T>G | XP_016867807.1:p.Leu717Val | |
| NM_000441.2:c.2227T>G MANE Select | NP_000432.1:p.Leu743Val |