Linked Data
ClinVar Variation Id:
11815
ClinVar RCV Id:
RCV000012586
RCV000081212
RCV000146359
RCV000169940
RCV000515283
RCV000624100
RCV001705588
RCV001196907
RCV004540996
dbSNP Id:
rs61750240
COSMIC:
COSM4108017
PubMed:
PMID:8177735
PMID:10508514
PMID:10814718
PMID:10814719
PMID:10854091
PMID:10944854
PMID:10991688
PMID:11035019
PMID:11055898
PMID:11058114
PMID:11214906
PMID:11227330
PMID:11238684
PMID:11241840
PMID:11245712
PMID:11269512
PMID:11309679
PMID:11313756
PMID:11376998
PMID:11402105
PMID:11462237
PMID:11524741
PMID:11738860
PMID:11738864
PMID:11738885
PMID:11896459
PMID:11913567
PMID:11960578
PMID:12075485
PMID:12180070
PMID:12325033
PMID:12615169
PMID:15057977
PMID:15173251
PMID:15287421
PMID:15389714
PMID:15526954
PMID:15558314
PMID:15737703
PMID:16077729
PMID:16169931
PMID:16473305
PMID:16672765
PMID:16832102
PMID:17089071
PMID:17236109
PMID:17267601
PMID:17341617
PMID:17351020
PMID:17387578
PMID:17986102
PMID:18332345
PMID:18337588
PMID:19722030
PMID:20031356
PMID:21154482
PMID:21954873
PMID:22277191
PMID:22525432
PMID:23238081
PMID:23262346
PMID:23421866
PMID:23810759
PMID:24458799
PMID:27354166
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154031020G>A , CM000685.2:g.154031020G>A | GRCh38 |
| NC_000023.10:g.153296471G>A , CM000685.1:g.153296471G>A | GRCh37 |
| NC_000023.9:g.152949665G>A | NCBI36 |
| NG_007107.2:g.111108C>T | |
| NG_007107.3:g.111084C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303391.11:c.808C>T MANE Plus Clinical | ENSP00000301948.6:p.Arg270Ter | |
| ENST00000453960.7:c.844C>T MANE Select | ENSP00000395535.2:p.Arg282Ter | |
| ENST00000637917.1:c.66-84C>T | ||
| ENST00000303391.10:c.808C>T | ENSP00000301948.6:p.Arg270Ter | |
| ENST00000407218.5:c.*180C>T | ENSP00000384865.2:n.*180C>T | |
| ENST00000453960.6:c.844C>T | ENSP00000395535.2:p.Arg282Ter | |
| ENST00000619732.4:c.808C>T | ENSP00000480973.1:p.Arg270Ter | |
| ENST00000622433.4:c.796C>T | ENSP00000484470.1:p.Arg266Ter | |
| ENST00000628176.2:c.*180C>T | ENSP00000486978.1:n.*180C>T | |
| NM_001110792.1:c.844C>T | NP_001104262.1:p.Arg282Ter | |
| NM_001316337.1:c.529C>T | NP_001303266.1:p.Arg177Ter | |
| NM_004992.3:c.808C>T | NP_004983.1:p.Arg270Ter | |
| XM_005274681.3:c.808C>T | XP_005274738.1:p.Arg270Ter | |
| XM_005274682.3:c.529C>T | XP_005274739.1:p.Arg177Ter | |
| XM_005274683.3:c.529C>T | XP_005274740.1:p.Arg177Ter | |
| XM_006724819.2:c.139C>T | XP_006724882.1:p.Arg47Ter | |
| XM_011531166.1:c.529C>T | XP_011529468.1:p.Arg177Ter | |
| XM_006724819.3:c.139C>T | XP_006724882.1:p.Arg47Ter | |
| XM_011531166.2:c.529C>T | XP_011529468.1:p.Arg177Ter | |
| XM_024452383.1:c.529C>T | XP_024308151.1:p.Arg177Ter | |
| XM_024452384.1:c.529C>T | XP_024308152.1:p.Arg177Ter | |
| NM_001110792.2:c.844C>T MANE Select | NP_001104262.1:p.Arg282Ter | |
| NM_001316337.2:c.529C>T | NP_001303266.1:p.Arg177Ter | |
| NM_001369391.2:c.529C>T | NP_001356320.1:p.Arg177Ter | |
| NM_001369392.2:c.529C>T | NP_001356321.1:p.Arg177Ter | |
| NM_001369393.2:c.529C>T | NP_001356322.1:p.Arg177Ter | |
| NM_001369394.1:c.529C>T | NP_001356323.1:p.Arg177Ter | |
| NM_001369394.2:c.529C>T | NP_001356323.1:p.Arg177Ter | |
| NM_001386137.1:c.139C>T | NP_001373066.1:p.Arg47Ter | |
| NM_001386138.1:c.139C>T | NP_001373067.1:p.Arg47Ter | |
| NM_001386139.1:c.139C>T | NP_001373068.1:p.Arg47Ter | |
| NM_004992.4:c.808C>T MANE Plus Clinical | NP_004983.1:p.Arg270Ter |