Linked Data
ClinVar Variation Id:
787393
ClinVar RCV Id:
RCV000969621
dbSNP Id:
rs61741940
ExAC:
12:46246248 C / T
gnomAD v2:
12-46246248-C-T
gnomAD v3:
12-45852465-C-T
gnomAD v4:
12-45852465-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.45852465C>T , CM000674.2:g.45852465C>T | GRCh38 |
| NC_000012.11:g.46246248C>T , CM000674.1:g.46246248C>T | GRCh37 |
| NC_000012.10:g.44532515C>T | NCBI36 |
| NG_052800.1:g.127801C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422737.7:c.4342C>T | ENSP00000415650.3:p.Leu1448Phe | |
| ENST00000457135.2:c.551C>T | ||
| ENST00000334344.11:c.4342C>T MANE Select | ENSP00000335044.6:p.Leu1448Phe | |
| ENST00000422737.6:c.4263C>T | ||
| ENST00000334344.10:c.4342C>T | ENSP00000335044.6:p.Leu1448Phe | |
| ENST00000422737.5:c.3895C>T | ENSP00000415650.1:p.Leu1299Phe | |
| ENST00000444670.5:c.3172C>T | ENSP00000397307.1:p.Leu1058Phe | |
| ENST00000457135.1:c.166C>T | ENSP00000388357.1:p.Leu56Phe | |
| ENST00000479608.5:n.3633C>T | ||
| NM_152641.2:c.4342C>T | NP_689854.2:p.Leu1448Phe | |
| XM_006719272.2:c.4342C>T | XP_006719335.1:p.Leu1448Phe | |
| XM_011538025.1:c.2710C>T | XP_011536327.1:p.Leu904Phe | |
| XR_944505.1:n.4490C>T | ||
| NM_001347839.1:c.4342C>T | NP_001334768.1:p.Leu1448Phe | |
| NM_152641.3:c.4342C>T | NP_689854.2:p.Leu1448Phe | |
| XM_006719272.4:c.4342C>T | XP_006719335.1:p.Leu1448Phe | |
| XR_944505.3:n.4473C>T | ||
| NM_152641.4:c.4342C>T MANE Select | NP_689854.2:p.Leu1448Phe | |
| NM_001347839.2:c.4342C>T | NP_001334768.1:p.Leu1448Phe |