Linked Data
ClinVar Variation Id:
541990
ClinVar RCV Id:
RCV000652353
dbSNP Id:
rs1000728174
gnomAD v2:
8-48841679-A-T
gnomAD v3:
8-47929119-A-T
gnomAD v4:
8-47929119-A-T
COSMIC:
COSM5109945
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47929119A>T , CM000670.2:g.47929119A>T | GRCh38 |
| NC_000008.10:g.48841679A>T , CM000670.1:g.48841679A>T | GRCh37 |
| NC_000008.9:g.49004232A>T | NCBI36 |
| NG_023435.1:g.36065T>A , LRG_162:g.36065T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000314191.7:c.2112T>A MANE Select | ENSP00000313420.3:p.Phe704Leu | |
| ENST00000314191.6:c.2112T>A | ENSP00000313420.3:p.Phe704Leu | |
| ENST00000338368.7:c.2112T>A | ENSP00000345182.4:p.Phe704Leu | |
| ENST00000541488.1:n.51T>A | ||
| NM_001081640.1:c.2112T>A | NP_001075109.1:p.Phe704Leu | |
| NM_006904.6:c.2112T>A , LRG_162t1:c.2112T>A | NP_008835.5:p.Phe704Leu | |
| XM_011517567.1:c.2112T>A | XP_011515869.1:p.Phe704Leu | |
| XM_011517568.1:c.2112T>A | XP_011515870.1:p.Phe704Leu | |
| NM_001081640.2:c.2112T>A | NP_001075109.1:p.Phe704Leu | |
| NM_006904.7:c.2112T>A MANE Select | NP_008835.5:p.Phe704Leu |