Linked Data
ClinVar Variation Id:
2536396
ClinVar RCV Id:
RCV003266288
dbSNP Id:
rs1263349169
gnomAD v2:
16-16248828-G-A
gnomAD v4:
16-16154971-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16154971G>A , CM000678.2:g.16154971G>A | GRCh38 |
| NC_000016.9:g.16248828G>A , CM000678.1:g.16248828G>A | GRCh37 |
| NC_000016.8:g.16156329G>A | NCBI36 |
| NG_007558.2:g.73501C>T | |
| NG_007558.3:g.73647C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576204.6:n.806C>T | ||
| ENST00000622290.5:c.*115C>T | ENSP00000483331.2:n.*115C>T | |
| ENST00000205557.12:c.3943C>T MANE Select | ENSP00000205557.7:p.Leu1315Phe | |
| ENST00000640696.1:c.757C>T | ENSP00000492197.1:p.Leu253Phe | |
| ENST00000205557.11:c.3943C>T | ENSP00000205557.7:p.Leu1315Phe | |
| ENST00000456970.6:c.3568C>T | ENSP00000405002.2:n.3568C>T | |
| ENST00000576204.5:n.806C>T | ||
| ENST00000622290.4:c.*1152C>T | ENSP00000483331.1:n.*1152C>T | |
| NM_001171.5:c.3943C>T | NP_001162.4:p.Leu1315Phe | |
| XM_011522479.1:c.3910C>T | XP_011520781.1:p.Leu1304Phe | |
| XM_011522480.1:c.3601C>T | XP_011520782.1:p.Leu1201Phe | |
| XM_011522481.1:c.3601C>T | XP_011520783.1:p.Leu1201Phe | |
| XR_932836.1:n.4241C>T | ||
| XR_932837.1:n.3979C>T | ||
| XR_932838.1:n.4042C>T | ||
| XR_933134.1:n.539-4810G>A | ||
| NM_001351800.1:c.3601C>T | NP_001338729.1:p.Leu1201Phe | |
| NR_147784.1:n.3605C>T | ||
| XM_011522479.2:c.3910C>T | XP_011520781.1:p.Leu1304Phe | |
| XM_011522481.3:c.3601C>T | XP_011520783.1:p.Leu1201Phe | |
| XM_017023212.1:c.3775C>T | XP_016878701.1:p.Leu1259Phe | |
| XM_024450261.1:c.3979C>T | XP_024306029.1:p.Leu1327Phe | |
| XR_932836.2:n.4187C>T | ||
| XR_932837.3:n.3924C>T | ||
| XR_932838.3:n.3987C>T | ||
| NM_001171.6:c.3943C>T MANE Select | NP_001162.5:p.Leu1315Phe |