Linked Data
ClinVar Variation Id:
143749
ClinVar RCV Id:
RCV000133293
RCV000170240
RCV000170241
RCV000169947
RCV000624661
RCV001049007
RCV000851523
RCV003984819
dbSNP Id:
rs61751444
ERepo:
CA199325/MONDO:0010726/016
PubMed:
PMID:8177735
PMID:10508514
PMID:11035019
PMID:11058114
PMID:11227330
PMID:12615169
PMID:15057977
PMID:15558314
PMID:16169931
PMID:16832102
PMID:17084570
PMID:17236109
PMID:17267601
PMID:17351020
PMID:18337588
PMID:20479760
PMID:21154482
PMID:21160487
PMID:23421866
PMID:23810759
PMID:24458799
PMID:27354166
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154030903G>A , CM000685.2:g.154030903G>A | GRCh38 |
| NC_000023.10:g.153296354G>A , CM000685.1:g.153296354G>A | GRCh37 |
| NC_000023.9:g.152949548G>A | NCBI36 |
| NG_007107.2:g.111225C>T | |
| NG_007107.3:g.111201C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303391.11:c.925C>T MANE Plus Clinical | ENSP00000301948.6:p.Arg309Trp | |
| ENST00000453960.7:c.961C>T MANE Select | ENSP00000395535.2:p.Arg321Trp | |
| ENST00000637917.1:c.99C>T | ||
| ENST00000303391.10:c.925C>T | ENSP00000301948.6:p.Arg309Trp | |
| ENST00000407218.5:c.*297C>T | ENSP00000384865.2:n.*297C>T | |
| ENST00000453960.6:c.961C>T | ENSP00000395535.2:p.Arg321Trp | |
| ENST00000619732.4:c.925C>T | ENSP00000480973.1:p.Arg309Trp | |
| ENST00000622433.4:c.911C>T | ENSP00000484470.1:p.Pro304Leu | |
| ENST00000628176.2:c.*297C>T | ENSP00000486978.1:n.*297C>T | |
| NM_001110792.1:c.961C>T | NP_001104262.1:p.Arg321Trp | |
| NM_001316337.1:c.646C>T | NP_001303266.1:p.Arg216Trp | |
| NM_004992.3:c.925C>T | NP_004983.1:p.Arg309Trp | |
| XM_005274681.3:c.925C>T | XP_005274738.1:p.Arg309Trp | |
| XM_005274682.3:c.646C>T | XP_005274739.1:p.Arg216Trp | |
| XM_005274683.3:c.646C>T | XP_005274740.1:p.Arg216Trp | |
| XM_006724819.2:c.256C>T | XP_006724882.1:p.Arg86Trp | |
| XM_011531166.1:c.646C>T | XP_011529468.1:p.Arg216Trp | |
| XM_006724819.3:c.256C>T | XP_006724882.1:p.Arg86Trp | |
| XM_011531166.2:c.646C>T | XP_011529468.1:p.Arg216Trp | |
| XM_024452383.1:c.646C>T | XP_024308151.1:p.Arg216Trp | |
| XM_024452384.1:c.646C>T | XP_024308152.1:p.Arg216Trp | |
| NM_001110792.2:c.961C>T MANE Select | NP_001104262.1:p.Arg321Trp | |
| NM_001316337.2:c.646C>T | NP_001303266.1:p.Arg216Trp | |
| NM_001369391.2:c.646C>T | NP_001356320.1:p.Arg216Trp | |
| NM_001369392.2:c.646C>T | NP_001356321.1:p.Arg216Trp | |
| NM_001369393.2:c.646C>T | NP_001356322.1:p.Arg216Trp | |
| NM_001369394.1:c.646C>T | NP_001356323.1:p.Arg216Trp | |
| NM_001369394.2:c.646C>T | NP_001356323.1:p.Arg216Trp | |
| NM_001386137.1:c.256C>T | NP_001373066.1:p.Arg86Trp | |
| NM_001386138.1:c.256C>T | NP_001373067.1:p.Arg86Trp | |
| NM_001386139.1:c.256C>T | NP_001373068.1:p.Arg86Trp | |
| NM_004992.4:c.925C>T MANE Plus Clinical | NP_004983.1:p.Arg309Trp |