Linked Data
ClinVar Variation Id:
45126
ClinVar RCV Id:
RCV000038273
dbSNP Id:
rs397517041
PubMed:
PMID:16773572
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.25209908C>A , CM000674.2:g.25209908C>A | GRCh38 |
| NC_000012.11:g.25362842C>A , CM000674.1:g.25362842C>A | GRCh37 |
| NC_000012.10:g.25254109C>A | NCBI36 |
| NG_007524.1:g.46013G>T | |
| NG_007524.2:g.46096G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557334.6:c.115G>T | ENSP00000452512.1:p.Val39Phe | |
| ENST00000685328.1:c.454G>T | ENSP00000508921.1:p.Val152Phe | |
| ENST00000686877.1:c.*425G>T | ENSP00000510431.1:n.*425G>T | |
| ENST00000687356.1:c.*152G>T | ENSP00000510511.1:n.*152G>T | |
| ENST00000688228.1:n.928G>T | ||
| ENST00000688940.1:c.454G>T | ENSP00000509238.1:p.Val152Phe | |
| ENST00000690406.1:c.257G>T | ||
| ENST00000690804.1:c.*415G>T | ENSP00000508568.1:n.*415G>T | |
| ENST00000692768.1:c.256G>T | ENSP00000510254.1:p.Val86Phe | |
| ENST00000693229.1:c.379G>T | ENSP00000509223.1:p.Val127Phe | |
| ENST00000256078.10:c.*8G>T MANE Plus Clinical | ENSP00000256078.5:n.*8G>T | |
| ENST00000311936.8:c.454G>T MANE Select | ENSP00000308495.3:p.Val152Phe | |
| ENST00000256078.8:c.*8G>T | ENSP00000256078.4:n.*8G>T | |
| ENST00000311936.7:c.454G>T | ENSP00000308495.3:p.Val152Phe | |
| ENST00000557334.5:c.115G>T | ENSP00000452512.1:p.Val39Phe | |
| NM_004985.4:c.454G>T | NP_004976.2:p.Val152Phe | |
| NM_033360.3:c.*8G>T | NP_203524.1:n.*8G>T | |
| XM_006719069.2:c.*8G>T | XP_006719132.1:n.*8G>T | |
| XM_011520653.1:c.454G>T | XP_011518955.1:p.Val152Phe | |
| XM_006719069.4:c.*8G>T | XP_006719132.1:n.*8G>T | |
| XM_011520653.3:c.454G>T | XP_011518955.1:p.Val152Phe | |
| NM_001369786.1:c.*8G>T | NP_001356715.1:n.*8G>T | |
| NM_001369787.1:c.454G>T | NP_001356716.1:p.Val152Phe | |
| NM_004985.5:c.454G>T MANE Select | NP_004976.2:p.Val152Phe | |
| NM_033360.4:c.*8G>T MANE Plus Clinical | NP_203524.1:n.*8G>T |