Linked Data
ClinVar Variation Id:
438164
ClinVar RCV Id:
RCV000504916
dbSNP Id:
rs1555303320
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21330269G>A , CM000676.2:g.21330269G>A | GRCh38 |
| NC_000014.8:g.21798428G>A , CM000676.1:g.21798428G>A | GRCh37 |
| NC_000014.7:g.20868268G>A | NCBI36 |
| NG_008933.1:g.47293G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.3120G>A MANE Select | ENSP00000382895.2:p.Trp1040Ter | |
| ENST00000382933.8:c.1098G>A | ENSP00000372391.4:p.Trp366Ter | |
| ENST00000400017.6:c.3120G>A | ENSP00000382895.2:p.Trp1040Ter | |
| ENST00000553927.1:n.2052G>A | ||
| ENST00000555322.5:c.1547G>A | ||
| ENST00000555489.5:c.1313G>A | ENSP00000451044.1:n.1313G>A | |
| ENST00000555587.5:c.1545G>A | ENSP00000451262.1:p.Trp515Ter | |
| ENST00000556336.5:c.2091G>A | ENSP00000450445.1:p.Trp697Ter | |
| ENST00000557606.1:c.50G>A | ||
| ENST00000557771.5:c.3006G>A | ENSP00000451219.1:p.Trp1002Ter | |
| NM_020366.3:c.3120G>A | NP_065099.3:p.Trp1040Ter | |
| XM_005267879.2:c.2046G>A | XP_005267936.1:p.Trp682Ter | |
| XM_005267880.2:c.2013G>A | XP_005267937.1:p.Trp671Ter | |
| XM_005267881.2:c.1494G>A | XP_005267938.1:p.Trp498Ter | |
| XM_011536978.1:c.2043G>A | XP_011535280.1:p.Trp681Ter | |
| XM_011536979.1:c.1830G>A | XP_011535281.1:p.Trp610Ter | |
| XM_011536980.1:c.1701G>A | XP_011535282.1:p.Trp567Ter | |
| XM_011536981.1:c.1551G>A | XP_011535283.1:p.Trp517Ter | |
| XM_011536982.1:c.1206G>A | XP_011535284.1:p.Trp402Ter | |
| XM_011536983.1:c.3087G>A | XP_011535285.1:p.Trp1029Ter | |
| XM_005267881.3:c.1494G>A | XP_005267938.1:p.Trp498Ter | |
| XM_017021473.1:c.1548G>A | XP_016876962.1:p.Trp516Ter | |
| XM_024449663.1:c.2043G>A | XP_024305431.1:p.Trp681Ter | |
| XM_024449664.1:c.1548G>A | XP_024305432.1:p.Trp516Ter | |
| XM_024449665.1:c.1206G>A | XP_024305433.1:p.Trp402Ter | |
| XM_024449666.1:c.1203G>A | XP_024305434.1:p.Trp401Ter | |
| NM_001377523.1:c.1098G>A | NP_001364452.1:p.Trp366Ter | |
| NM_001377948.1:c.2046G>A | NP_001364877.1:p.Trp682Ter | |
| NM_001377949.1:c.1206G>A | NP_001364878.1:p.Trp402Ter | |
| NM_001377950.1:c.1095G>A | NP_001364879.1:p.Trp365Ter | |
| NM_001377951.1:c.600G>A | NP_001364880.1:p.Trp200Ter | |
| NM_020366.4:c.3120G>A MANE Select | NP_065099.3:p.Trp1040Ter |