Linked Data
ClinVar Variation Id:
427146
ClinVar RCV Id:
RCV000490212
dbSNP Id:
rs1085307985
gnomAD v4:
14-77304777-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77304777C>T , CM000676.2:g.77304777C>T | GRCh38 |
| NC_000014.8:g.77771120C>T , CM000676.1:g.77771120C>T | GRCh37 |
| NC_000014.7:g.76840873C>T | NCBI36 |
| NG_008897.1:g.21106G>A , LRG_844:g.21106G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553863.6:c.24G>A | ENSP00000508202.1:p.Trp8Ter | |
| ENST00000555675.6:n.1727G>A | ||
| ENST00000556394.2:c.272G>A | ENSP00000451967.2:p.Gly91Asp | |
| ENST00000556880.6:n.486G>A | ||
| ENST00000682247.1:c.462G>A | ENSP00000507213.1:p.Trp154Ter | |
| ENST00000682377.1:c.24G>A | ENSP00000507494.1:p.Trp8Ter | |
| ENST00000682382.1:c.410G>A | ||
| ENST00000682395.1:n.191G>A | ||
| ENST00000682459.1:n.126G>A | ||
| ENST00000682467.1:c.462G>A | ENSP00000508062.1:p.Trp154Ter | |
| ENST00000682795.1:c.462G>A | ENSP00000507574.1:p.Trp154Ter | |
| ENST00000682895.1:n.178G>A | ||
| ENST00000682955.1:n.126G>A | ||
| ENST00000683188.1:c.257G>A | ||
| ENST00000683300.1:c.24G>A | ENSP00000507630.1:p.Trp8Ter | |
| ENST00000683328.1:c.24G>A | ENSP00000508096.1:p.Trp8Ter | |
| ENST00000683380.1:n.126G>A | ||
| ENST00000683828.1:c.331G>A | ||
| ENST00000684102.1:n.1744G>A | ||
| ENST00000684259.1:n.313G>A | ||
| ENST00000684549.1:n.282G>A | ||
| ENST00000684600.1:c.276G>A | ||
| ENST00000261534.9:c.462G>A MANE Select | ENSP00000261534.4:p.Trp154Ter | |
| ENST00000261534.8:c.462G>A | ENSP00000261534.4:p.Trp154Ter | |
| ENST00000452340.7:n.485G>A | ||
| ENST00000553863.5:n.126G>A | ||
| ENST00000554948.1:c.189G>A | ENSP00000452060.1:p.Trp63Ter | |
| ENST00000555675.5:n.178G>A | ||
| ENST00000555788.5:n.387G>A | ||
| ENST00000556326.5:c.*128G>A | ENSP00000450630.1:n.*128G>A | |
| ENST00000556880.5:n.486G>A | ||
| ENST00000557525.1:n.552G>A | ||
| NM_013382.5:c.462G>A , LRG_844t1:c.462G>A | NP_037514.2:p.Trp154Ter | |
| XM_011536675.1:c.462G>A | XP_011534977.1:p.Trp154Ter | |
| XM_011536676.1:c.129G>A | XP_011534978.1:p.Trp43Ter | |
| XM_011536677.1:c.462G>A | XP_011534979.1:p.Trp154Ter | |
| XM_011536678.1:c.462G>A | XP_011534980.1:p.Trp154Ter | |
| XM_011536679.1:c.-176G>A | XP_011534981.1:n.-176G>A | |
| XM_011536680.1:c.462G>A | XP_011534982.1:p.Trp154Ter | |
| XR_943416.1:n.665G>A | ||
| XM_011536675.2:c.462G>A | XP_011534977.1:p.Trp154Ter | |
| XM_011536676.2:c.129G>A | XP_011534978.1:p.Trp43Ter | |
| XM_011536677.3:c.462G>A | XP_011534979.1:p.Trp154Ter | |
| XR_001750279.1:n.662G>A | ||
| XR_001750282.1:n.666G>A | ||
| XR_943416.3:n.663G>A | ||
| NM_013382.6:c.462G>A | NP_037514.2:p.Trp154Ter | |
| NM_013382.7:c.462G>A MANE Select | NP_037514.2:p.Trp154Ter |