Linked Data
ClinVar Variation Id:
4084
ClinVar RCV Id:
RCV000004299
dbSNP Id:
rs104894486
PubMed:
PMID:15996215
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68209639G>C , CM000677.2:g.68209639G>C | GRCh38 |
| NC_000015.9:g.68501977G>C , CM000677.1:g.68501977G>C | GRCh37 |
| NC_000015.8:g.66289031G>C | NCBI36 |
| NG_008764.2:g.52573C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000249806.11:c.663C>G MANE Select | ENSP00000249806.5:p.Tyr221Ter | |
| ENST00000562767.2:c.84-12011C>G | ENSP00000456336.1:n.84-12011C>G | |
| ENST00000563917.2:n.505C>G | ||
| ENST00000565471.6:c.204C>G | ENSP00000457384.1:p.Tyr68Ter | |
| ENST00000635747.1:c.*566C>G | ENSP00000490627.1:n.*566C>G | |
| ENST00000636212.1:c.*333C>G | ENSP00000489851.1:n.*333C>G | |
| ENST00000636674.1:n.1765C>G | ||
| ENST00000636964.1:n.2191C>G | ||
| ENST00000637054.1:c.198+8897C>G | ENSP00000490807.1:n.198+8897C>G | |
| ENST00000637329.1:c.632C>G | ||
| ENST00000637450.1:c.*317C>G | ENSP00000490204.1:n.*317C>G | |
| ENST00000637494.1:c.375C>G | ENSP00000490057.1:p.Tyr125Ter | |
| ENST00000637667.1:c.564C>G | ENSP00000489843.1:p.Tyr188Ter | |
| ENST00000637823.1:c.488C>G | ||
| ENST00000637888.1:c.198+8897C>G | ENSP00000490546.1:n.198+8897C>G | |
| ENST00000638076.1:c.*266C>G | ENSP00000490373.1:n.*266C>G | |
| ENST00000638144.1:n.306C>G | ||
| ENST00000646164.1:c.38+8897C>G | ||
| ENST00000249806.9:c.663C>G | ENSP00000249806.5:p.Tyr221Ter | |
| ENST00000538696.5:c.759C>G | ENSP00000445770.1:p.Tyr253Ter | |
| ENST00000562767.1:c.84-12011C>G | ENSP00000456336.1:n.84-12011C>G | |
| ENST00000563917.1:n.563C>G | ||
| ENST00000564752.1:c.*47C>G | ENSP00000457822.1:n.*47C>G | |
| ENST00000565471.5:c.204C>G | ENSP00000457384.1:p.Tyr68Ter | |
| ENST00000566347.5:c.474C>G | ENSP00000457783.1:p.Tyr158Ter | |
| ENST00000567060.5:c.*61C>G | ENSP00000454818.1:n.*61C>G | |
| NM_017882.2:c.663C>G | NP_060352.1:p.Tyr221Ter | |
| XR_931861.1:n.885C>G | ||
| NM_017882.3:c.663C>G MANE Select | NP_060352.1:p.Tyr221Ter |