Linked Data
dbSNP Id:
rs745816903
ExAC:
12:129299420 T / A
gnomAD v2:
12-129299420-T-A
gnomAD v4:
12-128814875-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.128814875T>A , CM000674.2:g.128814875T>A | GRCh38 |
| NC_000012.11:g.129299420T>A , CM000674.1:g.129299420T>A | GRCh37 |
| NC_000012.10:g.127865373T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266771.10:c.742A>T MANE Select | ENSP00000266771.5:p.Ile248Phe | |
| ENST00000266771.9:c.742A>T | ENSP00000266771.5:p.Ile248Phe | |
| ENST00000366292.6:n.1054A>T | ||
| ENST00000376740.8:c.321A>T | ||
| ENST00000376744.8:c.578A>T | ||
| ENST00000539703.1:n.392A>T | ||
| ENST00000614634.1:c.-101A>T | ENSP00000483143.1:n.-101A>T | |
| NM_145648.3:c.742A>T | NP_663623.1:p.Ile248Phe | |
| XM_011537895.1:c.892A>T | XP_011536197.1:p.Ile298Phe | |
| XR_429081.2:n.765A>T | ||
| XR_944494.1:n.915A>T | ||
| XR_944495.1:n.915A>T | ||
| XR_944496.1:n.915A>T | ||
| XR_944497.1:n.915A>T | ||
| XM_017018791.1:c.892A>T | XP_016874280.1:p.Ile298Phe | |
| XM_017018792.1:c.892A>T | XP_016874281.1:p.Ile298Phe | |
| XM_017018793.1:c.742A>T | XP_016874282.1:p.Ile248Phe | |
| XR_002957287.1:n.765A>T | ||
| XR_944496.2:n.915A>T | ||
| NM_145648.4:c.742A>T MANE Select | NP_663623.1:p.Ile248Phe |