Linked Data
ClinVar Variation Id:
21549
ClinVar RCV Id:
RCV000020739
dbSNP Id:
rs199422201
PubMed:
PMID:20301772
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197088358G>T , CM000663.2:g.197088358G>T | GRCh38 |
| NC_000001.10:g.197057488G>T , CM000663.1:g.197057488G>T | GRCh37 |
| NC_000001.9:g.195324111G>T | NCBI36 |
| NG_015867.1:g.63337C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367408.6:n.3346C>A | ||
| ENST00000367409.9:c.10059C>A MANE Select | ENSP00000356379.4:p.Tyr3353Ter | |
| ENST00000680265.1:c.10281C>A | ENSP00000505384.1:p.Tyr3427Ter | |
| ENST00000680710.1:c.10035C>A | ENSP00000506676.1:p.Tyr3345Ter | |
| ENST00000294732.11:c.5304C>A | ENSP00000294732.7:p.Tyr1768Ter | |
| ENST00000367408.5:c.3054C>A | ENSP00000356378.1:p.Tyr1018Ter | |
| ENST00000367409.8:c.10059C>A | ENSP00000356379.4:p.Tyr3353Ter | |
| ENST00000612785.1:c.4017C>A | ENSP00000479244.1:p.Tyr1339Ter | |
| NM_001206846.1:c.5304C>A | NP_001193775.1:p.Tyr1768Ter | |
| NM_018136.4:c.10059C>A | NP_060606.3:p.Tyr3353Ter | |
| NM_018136.5:c.10059C>A MANE Select | NP_060606.3:p.Tyr3353Ter | |
| NM_001206846.2:c.5304C>A | NP_001193775.1:p.Tyr1768Ter |