Linked Data
ClinVar Variation Id:
11809
ClinVar RCV Id:
RCV000012578
RCV000030666
RCV000081202
RCV000170107
RCV000169934
RCV000445570
RCV000460141
RCV000624907
RCV001257757
RCV002273925
RCV003984804
dbSNP Id:
rs28934904
ERepo:
CA211250/MONDO:0010726/016
PubMed:
PMID:1191367
PMID:8177735
PMID:10508514
PMID:10577905
PMID:10745042
PMID:10814718
PMID:10991688
PMID:11035019
PMID:11055878
PMID:11055898
PMID:11058114
PMID:11227330
PMID:11245712
PMID:11269512
PMID:11309679
PMID:11313756
PMID:11376998
PMID:11402105
PMID:11462237
PMID:11469283
PMID:11738879
PMID:11738885
PMID:11746022
PMID:11913567
PMID:11960578
PMID:12111643
PMID:12180070
PMID:12567420
PMID:12615169
PMID:12707946
PMID:12746406
PMID:12966523
PMID:14560307
PMID:15057977
PMID:15173251
PMID:15526954
PMID:15558314
PMID:15737703
PMID:16122633
PMID:16169931
PMID:16473305
PMID:16832102
PMID:17089071
PMID:17236109
PMID:17267601
PMID:17341617
PMID:17351020
PMID:17387578
PMID:17986102
PMID:18332345
PMID:18337588
PMID:18562141
PMID:19652677
PMID:19722030
PMID:20031356
PMID:20301670
PMID:21154482
PMID:21160487
PMID:21831886
PMID:21954873
PMID:21982064
PMID:22277191
PMID:23262346
PMID:23421866
PMID:23810759
PMID:24458799
PMID:26175308
PMID:26795593
PMID:27354166
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154031431G>A , CM000685.2:g.154031431G>A | GRCh38 |
| NC_000023.10:g.153296882G>A , CM000685.1:g.153296882G>A | GRCh37 |
| NC_000023.9:g.152950076G>A | NCBI36 |
| NG_007107.2:g.110697C>T | |
| NG_007107.3:g.110673C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303391.11:c.397C>T MANE Plus Clinical | ENSP00000301948.6:p.Arg133Cys | |
| ENST00000453960.7:c.433C>T MANE Select | ENSP00000395535.2:p.Arg145Cys | |
| ENST00000637917.1:c.30C>T | ||
| ENST00000303391.10:c.397C>T | ENSP00000301948.6:p.Arg133Cys | |
| ENST00000369957.5:c.*451C>T | ENSP00000358973.4:n.*451C>T | |
| ENST00000407218.5:c.433C>T | ENSP00000384865.2:p.Arg145Cys | |
| ENST00000453960.6:c.433C>T | ENSP00000395535.2:p.Arg145Cys | |
| ENST00000486506.5:n.2745C>T | ||
| ENST00000611468.1:c.385C>T | ENSP00000479736.1:p.Arg129Cys | |
| ENST00000619732.4:c.397C>T | ENSP00000480973.1:p.Arg133Cys | |
| ENST00000622433.4:c.385C>T | ENSP00000484470.1:p.Arg129Cys | |
| ENST00000628176.2:c.397C>T | ENSP00000486978.1:p.Arg133Cys | |
| NM_001110792.1:c.433C>T | NP_001104262.1:p.Arg145Cys | |
| NM_001316337.1:c.118C>T | NP_001303266.1:p.Arg40Cys | |
| NM_004992.3:c.397C>T | NP_004983.1:p.Arg133Cys | |
| XM_005274681.3:c.397C>T | XP_005274738.1:p.Arg133Cys | |
| XM_005274682.3:c.118C>T | XP_005274739.1:p.Arg40Cys | |
| XM_005274683.3:c.118C>T | XP_005274740.1:p.Arg40Cys | |
| XM_006724819.2:c.-164C>T | XP_006724882.1:n.-164C>T | |
| XM_011531166.1:c.118C>T | XP_011529468.1:p.Arg40Cys | |
| XM_006724819.3:c.-164C>T | XP_006724882.1:n.-164C>T | |
| XM_011531166.2:c.118C>T | XP_011529468.1:p.Arg40Cys | |
| XM_024452383.1:c.118C>T | XP_024308151.1:p.Arg40Cys | |
| XM_024452384.1:c.118C>T | XP_024308152.1:p.Arg40Cys | |
| NM_001110792.2:c.433C>T MANE Select | NP_001104262.1:p.Arg145Cys | |
| NM_001316337.2:c.118C>T | NP_001303266.1:p.Arg40Cys | |
| NM_001369391.2:c.118C>T | NP_001356320.1:p.Arg40Cys | |
| NM_001369392.2:c.118C>T | NP_001356321.1:p.Arg40Cys | |
| NM_001369393.2:c.118C>T | NP_001356322.1:p.Arg40Cys | |
| NM_001369394.1:c.118C>T | NP_001356323.1:p.Arg40Cys | |
| NM_001369394.2:c.118C>T | NP_001356323.1:p.Arg40Cys | |
| NM_001386137.1:c.-164C>T | NP_001373066.1:n.-164C>T | |
| NM_001386138.1:c.-164C>T | NP_001373067.1:n.-164C>T | |
| NM_001386139.1:c.-164C>T | NP_001373068.1:n.-164C>T | |
| NM_004992.4:c.397C>T MANE Plus Clinical | NP_004983.1:p.Arg133Cys |