Linked Data
ClinVar Variation Id:
2043
ClinVar RCV Id:
RCV000002124
dbSNP Id:
rs104893681
gnomAD v4:
3-97791800-T-G
PubMed:
PMID:15314642
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.97791800T>G , CM000665.2:g.97791800T>G | GRCh38 |
| NC_000003.11:g.97510644T>G , CM000665.1:g.97510644T>G | GRCh37 |
| NC_000003.10:g.98993334T>G | NCBI36 |
| NG_008119.1:g.32050T>G | |
| NG_008119.2:g.32050T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000462412.3:c.509T>G | ENSP00000418740.2:p.Leu170Trp | |
| ENST00000631834.2:c.509T>G | ENSP00000488530.2:p.Leu170Trp | |
| ENST00000463745.6:c.509T>G MANE Select | ENSP00000419619.1:p.Leu170Trp | |
| ENST00000335979.6:c.509T>G | ENSP00000337722.2:p.Leu170Trp | |
| ENST00000394206.5:c.509T>G | ENSP00000377756.1:p.Leu170Trp | |
| ENST00000463745.5:c.509T>G | ENSP00000419619.1:p.Leu170Trp | |
| ENST00000476753.1:c.163+3681T>G | ||
| ENST00000493990.5:c.509T>G | ENSP00000418057.1:p.Leu170Trp | |
| ENST00000631834.1:c.371T>G | ENSP00000488530.1:p.Leu124Trp | |
| NM_001278293.1:c.509T>G | NP_001265222.1:p.Leu170Trp | |
| NM_032146.4:c.509T>G | NP_115522.1:p.Leu170Trp | |
| NM_177976.2:c.509T>G | NP_816931.1:p.Leu170Trp | |
| NR_103511.1:n.1092T>G | ||
| XM_006713779.2:c.509T>G | XP_006713842.1:p.Leu170Trp | |
| XM_006713783.2:c.479+3681T>G | XP_006713846.1:n.479+3681T>G | |
| XR_924184.1:n.981T>G | ||
| XR_924185.1:n.1087T>G | ||
| XR_924186.1:n.1134T>G | ||
| XR_924187.1:n.981T>G | ||
| XR_924188.1:n.1035T>G | ||
| XR_924189.1:n.981T>G | ||
| NM_001278293.2:c.509T>G | NP_001265222.1:p.Leu170Trp | |
| NM_001323513.1:c.509T>G | NP_001310442.1:p.Leu170Trp | |
| NM_001323514.1:c.479+3681T>G | NP_001310443.1:n.479+3681T>G | |
| NM_032146.5:c.509T>G | NP_115522.1:p.Leu170Trp | |
| NM_177976.3:c.509T>G | NP_816931.1:p.Leu170Trp | |
| NR_136595.1:n.1649T>G | ||
| NR_136597.1:n.1550T>G | ||
| NR_136598.1:n.997T>G | ||
| NR_136600.1:n.993T>G | ||
| NR_136601.1:n.993T>G | ||
| NR_136602.1:n.963+3681T>G | ||
| XM_017007311.2:c.509T>G | XP_016862800.1:p.Leu170Trp | |
| XM_017007312.2:c.479+3681T>G | XP_016862801.1:n.479+3681T>G | |
| XR_001740319.2:n.2933T>G | ||
| XR_001740321.2:n.2933T>G | ||
| XR_002959599.1:n.3549T>G | ||
| XR_924184.3:n.2933T>G | ||
| XR_924185.3:n.3032T>G | ||
| XR_924186.3:n.3091T>G | ||
| XR_924187.3:n.2933T>G | ||
| XR_924188.3:n.2992T>G | ||
| XR_924189.3:n.2933T>G | ||
| NM_001278293.3:c.509T>G MANE Select | NP_001265222.1:p.Leu170Trp | |
| NM_001323513.2:c.509T>G | NP_001310442.1:p.Leu170Trp | |
| NM_001323514.2:c.479+3681T>G | NP_001310443.1:n.479+3681T>G | |
| NR_103511.2:n.855T>G | ||
| NR_136595.2:n.1412T>G | ||
| NR_136597.2:n.1313T>G | ||
| NR_136598.2:n.760T>G | ||
| NR_136600.2:n.756T>G | ||
| NR_136601.2:n.756T>G | ||
| NR_136602.2:n.726+3681T>G | ||
| NR_103511.3:n.855T>G | ||
| NR_136600.3:n.756T>G | ||
| NR_136601.3:n.756T>G | ||
| NR_136602.3:n.726+3681T>G |