Linked Data
dbSNP Id:
rs371199627
ExAC:
12:121659733 C / T
gnomAD v2:
12-121659733-C-T
gnomAD v3:
12-121221930-C-T
gnomAD v4:
12-121221930-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121221930C>T , CM000674.2:g.121221930C>T | GRCh38 |
| NC_000012.11:g.121659733C>T , CM000674.1:g.121659733C>T | GRCh37 |
| NC_000012.10:g.120144116C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337233.9:c.300C>T MANE Select | ENSP00000336607.4:p.Phe100= | |
| ENST00000314442.7:n.4434C>T | ||
| ENST00000337233.8:c.300C>T | ENSP00000336607.4:p.Phe100= | |
| ENST00000359949.11:c.348C>T | ENSP00000353032.7:p.Phe116= | |
| ENST00000499638.6:n.336C>T | ||
| ENST00000538417.2:c.230C>T | ||
| ENST00000538701.5:c.135-6603C>T | ENSP00000444033.1:n.135-6603C>T | |
| ENST00000540930.5:n.336C>T | ||
| ENST00000541187.5:n.146C>T | ||
| ENST00000542067.5:c.300C>T | ENSP00000438329.1:p.Phe100= | |
| ENST00000543171.5:c.300C>T | ENSP00000438131.2:p.Phe100= | |
| ENST00000543318.5:c.300C>T | ENSP00000444274.1:p.Phe100= | |
| ENST00000543430.5:n.348C>T | ||
| ENST00000543984.5:c.152C>T | ENSP00000439386.1:p.Ser51Leu | |
| NM_001256796.1:c.348C>T | NP_001243725.1:p.Phe116= | |
| NM_001261397.1:c.300C>T | NP_001248326.1:p.Phe100= | |
| NM_001261398.1:c.300C>T | NP_001248327.1:p.Phe100= | |
| NM_002560.2:c.300C>T | NP_002551.2:p.Phe100= | |
| NR_046372.1:n.604C>T | ||
| NR_046373.1:n.456C>T | ||
| XM_011538416.1:c.135-6603C>T | XP_011536718.1:n.135-6603C>T | |
| XM_011538417.1:c.348C>T | XP_011536719.1:p.Phe116= | |
| XR_944559.1:n.408C>T | ||
| XM_011538416.2:c.135-6603C>T | XP_011536718.1:n.135-6603C>T | |
| XR_001748726.2:n.354C>T | ||
| XR_001748727.1:n.417C>T | ||
| XR_001748728.1:n.417C>T | ||
| XR_001748729.2:n.354C>T | ||
| XR_944559.2:n.407C>T | ||
| NM_001256796.2:c.348C>T | NP_001243725.1:p.Phe116= | |
| NM_001261397.2:c.300C>T | NP_001248326.1:p.Phe100= | |
| NM_001261398.2:c.300C>T | NP_001248327.1:p.Phe100= | |
| NM_002560.3:c.300C>T MANE Select | NP_002551.2:p.Phe100= | |
| NR_046372.2:n.336C>T | ||
| NR_046373.2:n.188C>T |