Linked Data
ClinVar Variation Id:
2711
ClinVar RCV Id:
RCV000002830
dbSNP Id:
rs121918298
PubMed:
PMID:19064721
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64211648G>A , CM000673.2:g.64211648G>A | GRCh38 |
| NC_000011.9:g.63979120G>A , CM000673.1:g.63979120G>A | GRCh37 |
| NC_000011.8:g.63735696G>A | NCBI36 |
| NG_016360.1:g.9969G>A , LRG_180:g.9969G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000279227.10:c.687G>A | ENSP00000279227.5:p.Trp229Ter | |
| ENST00000541252.2:c.147G>A | ENSP00000438885.2:p.Trp49Ter | |
| ENST00000541326.6:n.4G>A | ||
| ENST00000544997.6:c.687G>A | ENSP00000445778.2:p.Trp229Ter | |
| ENST00000546255.2:n.781G>A | ||
| ENST00000698845.1:c.687G>A | ENSP00000513981.1:p.Trp229Ter | |
| ENST00000698846.1:n.824G>A | ||
| ENST00000698847.1:c.*92G>A | ENSP00000513982.1:n.*92G>A | |
| ENST00000698852.1:c.687G>A | ENSP00000513984.1:p.Trp229Ter | |
| ENST00000698853.1:c.687G>A | ENSP00000513985.1:p.Trp229Ter | |
| ENST00000698854.1:c.687G>A | ENSP00000513986.1:p.Trp229Ter | |
| ENST00000698855.1:n.2339G>A | ||
| ENST00000698856.1:n.1607G>A | ||
| ENST00000698859.1:n.851G>A | ||
| ENST00000698860.1:c.687G>A | ENSP00000513988.1:p.Trp229Ter | |
| ENST00000698861.1:c.687G>A | ENSP00000513989.1:p.Trp229Ter | |
| ENST00000698862.1:c.687G>A | ENSP00000513990.1:p.Trp229Ter | |
| ENST00000698863.1:c.687G>A | ENSP00000513991.1:p.Trp229Ter | |
| ENST00000698864.1:n.793G>A | ||
| ENST00000698865.1:c.687G>A | ENSP00000513992.1:p.Trp229Ter | |
| ENST00000698866.1:c.*92G>A | ENSP00000513993.1:n.*92G>A | |
| ENST00000698867.1:n.4396G>A | ||
| ENST00000698868.1:c.687G>A | ENSP00000513994.1:p.Trp229Ter | |
| ENST00000698869.1:c.687G>A | ENSP00000513995.1:p.Trp229Ter | |
| ENST00000698870.1:c.687G>A | ENSP00000513996.1:p.Trp229Ter | |
| ENST00000698871.1:n.944G>A | ||
| ENST00000698872.1:c.147G>A | ENSP00000513997.1:p.Trp49Ter | |
| ENST00000698873.1:c.147G>A | ENSP00000513998.1:p.Trp49Ter | |
| ENST00000698874.1:c.147G>A | ENSP00000513999.1:p.Trp49Ter | |
| ENST00000698875.1:n.547G>A | ||
| ENST00000698878.1:c.687G>A | ENSP00000514000.1:p.Trp229Ter | |
| ENST00000698879.1:c.596G>A | ||
| ENST00000698880.1:c.527G>A | ||
| ENST00000345728.10:c.687G>A MANE Select | ENSP00000339950.5:p.Trp229Ter | |
| ENST00000279227.9:c.687G>A | ENSP00000279227.5:p.Trp229Ter | |
| ENST00000345728.9:c.687G>A | ENSP00000339950.5:p.Trp229Ter | |
| ENST00000541252.1:c.147G>A | ENSP00000438885.1:p.Trp49Ter | |
| ENST00000544997.5:c.687G>A | ENSP00000445778.1:p.Trp229Ter | |
| NM_031471.5:c.687G>A | NP_113659.3:p.Trp229Ter | |
| NM_178443.2:c.687G>A , LRG_180t1:c.687G>A | NP_848537.1:p.Trp229Ter | |
| XM_011545294.1:c.687G>A | XP_011543596.1:p.Trp229Ter | |
| XM_011545295.1:c.147G>A | XP_011543597.1:p.Trp49Ter | |
| XM_011545296.1:c.147G>A | XP_011543598.1:p.Trp49Ter | |
| XM_011545294.3:c.687G>A | XP_011543596.1:p.Trp229Ter | |
| XM_011545295.2:c.147G>A | XP_011543597.1:p.Trp49Ter | |
| XM_017018398.2:c.687G>A | XP_016873887.1:p.Trp229Ter | |
| XM_017018399.1:c.147G>A | XP_016873888.1:p.Trp49Ter | |
| NM_031471.6:c.687G>A MANE Select | NP_113659.3:p.Trp229Ter | |
| NM_001382361.1:c.687G>A | NP_001369290.1:p.Trp229Ter | |
| NM_001382362.1:c.687G>A | NP_001369291.1:p.Trp229Ter | |
| NM_001382363.1:c.147G>A | NP_001369292.1:p.Trp49Ter | |
| NM_001382364.1:c.147G>A | NP_001369293.1:p.Trp49Ter | |
| NM_001382448.1:c.687G>A | NP_001369377.1:p.Trp229Ter | |
| NM_178443.3:c.687G>A | NP_848537.1:p.Trp229Ter |