Linked Data
ClinVar Variation Id:
38348
dbSNP Id:
rs267607261
gnomAD v2:
2-27535620-C-T
gnomAD v4:
2-27312753-C-T
PubMed:
PMID:22593919
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27312753C>T , CM000664.2:g.27312753C>T | GRCh38 |
| NC_000002.11:g.27535620C>T , CM000664.1:g.27535620C>T | GRCh37 |
| NC_000002.10:g.27389124C>T | NCBI36 |
| NG_008075.1:g.14812G>A | |
| NG_033055.1:g.511G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380044.6:c.206G>A MANE Select | ENSP00000369383.1:p.Trp69Ter | |
| ENST00000233545.6:c.206G>A | ENSP00000233545.2:p.Trp69Ter | |
| ENST00000357186.10:c.38G>A | ENSP00000349713.6:p.Trp13Ter | |
| ENST00000380044.5:c.206G>A | ENSP00000369383.1:p.Trp69Ter | |
| ENST00000402310.5:c.206G>A | ENSP00000383955.1:p.Trp69Ter | |
| ENST00000402722.5:c.171G>A | ENSP00000386000.1:p.Leu57= | |
| ENST00000403262.6:c.206G>A | ENSP00000385671.1:p.Trp69Ter | |
| ENST00000405076.5:c.186+241G>A | ENSP00000385175.1:n.186+241G>A | |
| ENST00000405983.5:c.251G>A | ENSP00000384586.1:p.Trp84Ter | |
| ENST00000415514.5:c.*7G>A | ENSP00000388043.1:n.*7G>A | |
| ENST00000426513.6:c.171G>A | ENSP00000403824.2:p.Leu57= | |
| ENST00000428910.5:c.128G>A | ENSP00000405235.1:p.Trp43Ter | |
| ENST00000430991.5:c.136G>A | ||
| ENST00000475085.1:n.234G>A | ||
| ENST00000616446.1:n.183G>A | ||
| ENST00000616707.1:n.635G>A | ||
| ENST00000617583.4:n.232G>A | ||
| ENST00000621183.4:n.262G>A | ||
| ENST00000621470.4:n.222G>A | ||
| ENST00000622003.4:n.379G>A | ||
| NM_002437.4:c.206G>A | NP_002428.1:p.Trp69Ter | |
| XM_005264326.2:c.206G>A | XP_005264383.1:p.Trp69Ter | |
| XM_005264327.2:c.47G>A | XP_005264384.1:p.Trp16Ter | |
| XM_006712021.2:c.158G>A | XP_006712084.1:p.Trp53Ter | |
| XM_005264326.4:c.206G>A | XP_005264383.1:p.Trp69Ter | |
| XM_006712021.3:c.158G>A | XP_006712084.1:p.Trp53Ter | |
| XM_017004150.1:c.188G>A | XP_016859639.1:p.Trp63Ter | |
| XM_017004151.1:c.158G>A | XP_016859640.1:p.Trp53Ter | |
| XM_017004152.1:c.47G>A | XP_016859641.1:p.Trp16Ter | |
| XM_024452913.1:c.158G>A | XP_024308681.1:p.Trp53Ter | |
| NM_002437.5:c.206G>A MANE Select | NP_002428.1:p.Trp69Ter |