Linked Data
ClinVar Variation Id:
415318
dbSNP Id:
rs61736879
ExAC:
17:72306270 C / T
gnomAD v2:
17-72306270-C-T
gnomAD v3:
17-74310131-C-T
gnomAD v4:
17-74310131-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74310131C>T , CM000679.2:g.74310131C>T | GRCh38 |
| NC_000017.10:g.72306270C>T , CM000679.1:g.72306270C>T | GRCh37 |
| NC_000017.9:g.69817865C>T | NCBI36 |
| NG_016865.1:g.40885C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311014.11:c.1462C>T MANE Select | ENSP00000308312.6:p.Leu488Phe | |
| ENST00000311014.10:c.1462C>T | ENSP00000308312.6:p.Leu488Phe | |
| ENST00000446837.2:c.1462C>T | ENSP00000400252.2:p.Leu488Phe | |
| ENST00000579055.5:c.*833C>T | ENSP00000462767.1:n.*833C>T | |
| ENST00000579490.5:c.1633C>T | ENSP00000464197.1:p.Leu545Phe | |
| ENST00000582036.5:c.1426C>T | ENSP00000461950.1:p.Leu476Phe | |
| NM_001172810.1:c.1426C>T | NP_001166281.1:p.Leu476Phe | |
| NM_023036.4:c.1462C>T | NP_075462.3:p.Leu488Phe | |
| XM_011525125.1:c.1462C>T | XP_011523427.1:p.Leu488Phe | |
| XR_429915.2:n.1548C>T | ||
| XR_429916.2:n.1584C>T | ||
| XR_934518.1:n.1586C>T | ||
| XR_934519.1:n.1583C>T | ||
| XR_934520.1:n.1659C>T | ||
| XR_934521.1:n.1571C>T | ||
| XR_934522.1:n.1559C>T | ||
| XR_934523.1:n.1568C>T | ||
| XR_934524.1:n.1586C>T | ||
| XR_934525.1:n.1550C>T | ||
| XR_934526.1:n.1472C>T | ||
| XR_934527.1:n.1584C>T | ||
| XR_934528.1:n.1584C>T | ||
| XR_934529.1:n.1465C>T | ||
| XR_934530.1:n.1538C>T | ||
| XR_934531.1:n.1464C>T | ||
| NM_001172810.2:c.1426C>T | NP_001166281.1:p.Leu476Phe | |
| NM_001353167.1:c.1462C>T | NP_001340096.1:p.Leu488Phe | |
| NM_023036.5:c.1462C>T | NP_075462.3:p.Leu488Phe | |
| NR_148379.1:n.1487C>T | ||
| XM_011525125.2:c.1462C>T | XP_011523427.1:p.Leu488Phe | |
| XM_024450874.1:c.1462C>T | XP_024306642.1:p.Leu488Phe | |
| XM_024450875.1:c.1462C>T | XP_024306643.1:p.Leu488Phe | |
| XM_024450876.1:c.1462C>T | XP_024306644.1:p.Leu488Phe | |
| XM_024450877.1:c.1462C>T | XP_024306645.1:p.Leu488Phe | |
| XM_024450878.1:c.1462C>T | XP_024306646.1:p.Leu488Phe | |
| XM_024450879.1:c.1462C>T | XP_024306647.1:p.Leu488Phe | |
| XM_024450880.1:c.1426C>T | XP_024306648.1:p.Leu476Phe | |
| XM_024450881.1:c.1348C>T | XP_024306649.1:p.Leu450Phe | |
| XM_024450882.1:c.1426C>T | XP_024306650.1:p.Leu476Phe | |
| XM_024450883.1:c.1462C>T | XP_024306651.1:p.Leu488Phe | |
| XM_024450884.1:c.1462C>T | XP_024306652.1:p.Leu488Phe | |
| XM_024450885.1:c.1033C>T | XP_024306653.1:p.Leu345Phe | |
| XM_024450886.1:c.1033C>T | XP_024306654.1:p.Leu345Phe | |
| NM_023036.6:c.1462C>T MANE Select | NP_075462.3:p.Leu488Phe | |
| NM_001172810.3:c.1426C>T | NP_001166281.1:p.Leu476Phe | |
| NM_001353167.2:c.1462C>T | NP_001340096.1:p.Leu488Phe | |
| NR_148379.2:n.1463C>T |