Linked Data
ClinVar Variation Id:
1038918
ClinVar RCV Id:
RCV001342295
dbSNP Id:
rs745457802
gnomAD v2:
2-26624994-G-T
gnomAD v3:
2-26402126-G-T
gnomAD v4:
2-26402126-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26402126G>T , CM000664.2:g.26402126G>T | GRCh38 |
| NC_000002.11:g.26624994G>T , CM000664.1:g.26624994G>T | GRCh37 |
| NC_000002.10:g.26478498G>T | NCBI36 |
| NG_042824.1:g.5215G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288710.7:c.137G>T MANE Select | ENSP00000288710.2:p.Arg46Leu | |
| ENST00000649059.1:c.123G>T | ||
| ENST00000288710.6:c.137G>T | ENSP00000288710.2:p.Arg46Leu | |
| ENST00000421869.5:c.137G>T | ENSP00000414375.1:p.Arg46Leu | |
| NM_145038.3:c.137G>T | NP_659475.2:p.Arg46Leu | |
| NM_145038.4:c.137G>T | NP_659475.2:p.Arg46Leu | |
| XM_005264637.3:c.-298G>T | XP_005264694.1:n.-298G>T | |
| XM_017005271.1:c.-744G>T | XP_016860760.1:n.-744G>T | |
| XM_024453218.1:c.-560G>T | XP_024308986.1:n.-560G>T | |
| NM_145038.5:c.137G>T MANE Select | NP_659475.2:p.Arg46Leu |