Linked Data
ClinVar Variation Id:
12591
ClinVar RCV Id:
RCV000013422
dbSNP Id:
rs104894367
PubMed:
PMID:16773572
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.25209907A>C , CM000674.2:g.25209907A>C | GRCh38 |
| NC_000012.11:g.25362841A>C , CM000674.1:g.25362841A>C | GRCh37 |
| NC_000012.10:g.25254108A>C | NCBI36 |
| NG_007524.1:g.46014T>G | |
| NG_007524.2:g.46097T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557334.6:c.116T>G | ENSP00000452512.1:p.Val39Gly | |
| ENST00000685328.1:c.455T>G | ENSP00000508921.1:p.Val152Gly | |
| ENST00000686877.1:c.*426T>G | ENSP00000510431.1:n.*426T>G | |
| ENST00000687356.1:c.*153T>G | ENSP00000510511.1:n.*153T>G | |
| ENST00000688228.1:n.929T>G | ||
| ENST00000688940.1:c.455T>G | ENSP00000509238.1:p.Val152Gly | |
| ENST00000690406.1:c.258T>G | ||
| ENST00000690804.1:c.*416T>G | ENSP00000508568.1:n.*416T>G | |
| ENST00000692768.1:c.257T>G | ENSP00000510254.1:p.Val86Gly | |
| ENST00000693229.1:c.380T>G | ENSP00000509223.1:p.Val127Gly | |
| ENST00000256078.10:c.*9T>G MANE Plus Clinical | ENSP00000256078.5:n.*9T>G | |
| ENST00000311936.8:c.455T>G MANE Select | ENSP00000308495.3:p.Val152Gly | |
| ENST00000256078.8:c.*9T>G | ENSP00000256078.4:n.*9T>G | |
| ENST00000311936.7:c.455T>G | ENSP00000308495.3:p.Val152Gly | |
| ENST00000557334.5:c.116T>G | ENSP00000452512.1:p.Val39Gly | |
| NM_004985.4:c.455T>G | NP_004976.2:p.Val152Gly | |
| NM_033360.3:c.*9T>G | NP_203524.1:n.*9T>G | |
| XM_006719069.2:c.*9T>G | XP_006719132.1:n.*9T>G | |
| XM_011520653.1:c.455T>G | XP_011518955.1:p.Val152Gly | |
| XM_006719069.4:c.*9T>G | XP_006719132.1:n.*9T>G | |
| XM_011520653.3:c.455T>G | XP_011518955.1:p.Val152Gly | |
| NM_001369786.1:c.*9T>G | NP_001356715.1:n.*9T>G | |
| NM_001369787.1:c.455T>G | NP_001356716.1:p.Val152Gly | |
| NM_004985.5:c.455T>G MANE Select | NP_004976.2:p.Val152Gly | |
| NM_033360.4:c.*9T>G MANE Plus Clinical | NP_203524.1:n.*9T>G |