Linked Data
ClinVar Variation Id:
11644
ClinVar RCV Id:
RCV000012410
dbSNP Id:
rs267607000
gnomAD v2:
X-47039892-G-A
PubMed:
PMID:20451169
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47180493G>A , CM000685.2:g.47180493G>A | GRCh38 |
| NC_000023.10:g.47039892G>A , CM000685.1:g.47039892G>A | GRCh37 |
| NC_000023.9:g.46924836G>A | NCBI36 |
| NG_012548.1:g.40262G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377604.8:c.1235G>A MANE Select | ENSP00000366829.3:p.Trp412Ter | |
| ENST00000329236.8:c.1430G>A | ENSP00000328848.8:p.Trp477Ter | |
| ENST00000345781.10:c.1004G>A | ENSP00000329659.6:p.Trp335Ter | |
| ENST00000377604.7:c.1235G>A | ENSP00000366829.3:p.Trp412Ter | |
| ENST00000478410.1:n.610G>A | ||
| ENST00000496012.6:n.169-722G>A | ||
| ENST00000628161.2:c.1001G>A | ENSP00000486115.1:p.Trp334Ter | |
| NM_001204466.1:c.1004G>A | NP_001191395.1:p.Trp335Ter | |
| NM_001204467.1:c.1232G>A | NP_001191396.1:p.Trp411Ter | |
| NM_001204468.1:c.1430G>A | NP_001191397.1:p.Trp477Ter | |
| NM_005676.4:c.1235G>A | NP_005667.2:p.Trp412Ter | |
| NM_152856.2:c.1001G>A | NP_690595.1:p.Trp334Ter | |
| XM_005272677.3:c.1427G>A | XP_005272734.1:p.Trp476Ter | |
| XM_005272678.3:c.1199G>A | XP_005272735.1:p.Trp400Ter | |
| XM_005272679.3:c.1196G>A | XP_005272736.1:p.Trp399Ter | |
| XM_006724563.1:c.626G>A | XP_006724626.1:p.Trp209Ter | |
| XM_011543989.1:c.299G>A | XP_011542291.1:p.Trp100Ter | |
| XM_005272677.4:c.1427G>A | XP_005272734.1:p.Trp476Ter | |
| XM_005272678.4:c.1199G>A | XP_005272735.1:p.Trp400Ter | |
| XM_005272679.4:c.1196G>A | XP_005272736.1:p.Trp399Ter | |
| XM_017029884.2:c.626G>A | XP_016885373.1:p.Trp209Ter | |
| XM_017029885.1:c.623G>A | XP_016885374.1:p.Trp208Ter | |
| XM_024452457.1:c.1430G>A | XP_024308225.1:p.Trp477Ter | |
| XM_024452458.1:c.1427G>A | XP_024308226.1:p.Trp476Ter | |
| XM_024452459.1:c.1235G>A | XP_024308227.1:p.Trp412Ter | |
| XM_024452460.1:c.1232G>A | XP_024308228.1:p.Trp411Ter | |
| XM_024452461.1:c.1199G>A | XP_024308229.1:p.Trp400Ter | |
| XM_024452462.1:c.1004G>A | XP_024308230.1:p.Trp335Ter | |
| XM_024452463.1:c.626G>A | XP_024308231.1:p.Trp209Ter | |
| XM_024452464.1:c.626G>A | XP_024308232.1:p.Trp209Ter | |
| XM_024452465.1:c.299G>A | XP_024308233.1:p.Trp100Ter | |
| NM_005676.5:c.1235G>A MANE Select | NP_005667.2:p.Trp412Ter | |
| NM_001204466.2:c.1004G>A | NP_001191395.1:p.Trp335Ter | |
| NM_001204467.2:c.1232G>A | NP_001191396.1:p.Trp411Ter | |
| NM_152856.3:c.1001G>A | NP_690595.1:p.Trp334Ter | |
| NM_001204468.2:c.1430G>A | NP_001191397.1:p.Trp477Ter |