Linked Data
ClinVar Variation Id:
420075
ClinVar RCV Id:
RCV002446925
dbSNP Id:
rs1064794273
gnomAD v4:
17-31182578-G-A
PubMed:
PMID:8834249
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31182578G>A , CM000679.2:g.31182578G>A | GRCh38 |
| NC_000017.10:g.29509596G>A , CM000679.1:g.29509596G>A | GRCh37 |
| NC_000017.9:g.26533722G>A | NCBI36 |
| NG_009018.1:g.92602G>A , LRG_214:g.92602G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696138.1:c.801G>A | ENSP00000512431.1:p.Trp267Ter | |
| ENST00000686189.1:c.216G>A | ENSP00000509682.1:p.Trp72Ter | |
| ENST00000691014.1:c.801G>A | ENSP00000510595.1:p.Trp267Ter | |
| ENST00000358273.9:c.801G>A MANE Select | ENSP00000351015.4:p.Trp267Ter | |
| ENST00000490416.2:c.381G>A | ENSP00000491431.1:p.Trp127Ter | |
| ENST00000356175.7:c.801G>A | ENSP00000348498.3:p.Trp267Ter | |
| ENST00000358273.8:c.801G>A | ENSP00000351015.4:p.Trp267Ter | |
| ENST00000431387.8:c.801G>A | ENSP00000412921.4:p.Trp267Ter | |
| ENST00000487476.5:n.1184G>A | ||
| ENST00000490416.1:n.435G>A | ||
| ENST00000495910.6:c.576G>A | ||
| ENST00000579081.5:c.903G>A | ENSP00000462408.1:p.Trp301Ter | |
| NM_000267.3:c.801G>A , LRG_214t1:c.801G>A | NP_000258.1:p.Trp267Ter | |
| NM_001042492.2:c.801G>A , LRG_214t2:c.801G>A | NP_001035957.1:p.Trp267Ter | |
| NM_001128147.2:c.801G>A | NP_001121619.1:p.Trp267Ter | |
| XM_005257983.1:c.801G>A | XP_005258040.1:p.Trp267Ter | |
| XM_005257984.1:c.801G>A | XP_005258041.1:p.Trp267Ter | |
| XM_006721922.1:c.801G>A | XP_006721985.1:p.Trp267Ter | |
| XM_006721923.2:c.762G>A | XP_006721986.1:p.Trp254Ter | |
| XM_006721924.1:c.801G>A | XP_006721987.1:p.Trp267Ter | |
| XM_006721925.1:c.801G>A | XP_006721988.1:p.Trp267Ter | |
| XM_006721926.2:c.801G>A | XP_006721989.1:p.Trp267Ter | |
| XM_006721927.1:c.801G>A | XP_006721990.1:p.Trp267Ter | |
| XM_006721928.2:c.801G>A | XP_006721991.1:p.Trp267Ter | |
| XM_011524852.1:c.801G>A | XP_011523154.1:p.Trp267Ter | |
| XM_011524853.1:c.762G>A | XP_011523155.1:p.Trp254Ter | |
| XM_011524854.1:c.762G>A | XP_011523156.1:p.Trp254Ter | |
| XM_011524855.1:c.762G>A | XP_011523157.1:p.Trp254Ter | |
| XM_011524856.1:c.762G>A | XP_011523158.1:p.Trp254Ter | |
| XM_011524857.1:c.801G>A | XP_011523159.1:p.Trp267Ter | |
| NM_001042492.3:c.801G>A MANE Select | NP_001035957.1:p.Trp267Ter | |
| NM_001128147.3:c.801G>A | NP_001121619.1:p.Trp267Ter |