Linked Data
ClinVar Variation Id:
11829
ClinVar RCV Id:
RCV000012602
RCV000081209
RCV000169938
RCV000515183
RCV000553858
RCV001813976
RCV002273928
RCV002313706
RCV004545727
RCV003989103
dbSNP Id:
rs61749721
PubMed:
PMID:10508514
PMID:10577905
PMID:10745042
PMID:10767337
PMID:10814718
PMID:10814719
PMID:10854091
PMID:11007980
PMID:11055898
PMID:11214906
PMID:11238684
PMID:11241840
PMID:11245712
PMID:11269512
PMID:11309679
PMID:11313756
PMID:11313764
PMID:11446411
PMID:11462237
PMID:11524741
PMID:11738883
PMID:11738885
PMID:11913567
PMID:11960578
PMID:12065946
PMID:12111643
PMID:12180070
PMID:12325033
PMID:12567420
PMID:15057977
PMID:15173251
PMID:15389714
PMID:15526954
PMID:15737703
PMID:16473305
PMID:16672765
PMID:16763963
PMID:17089071
PMID:17387578
PMID:17986102
PMID:18174559
PMID:18332345
PMID:19652677
PMID:19722030
PMID:20031356
PMID:21954873
PMID:21982064
PMID:22277191
PMID:22476991
PMID:22525432
PMID:23262346
PMID:23810759
PMID:28135719
PMID:28263302
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154031065G>A , CM000685.2:g.154031065G>A | GRCh38 |
| NC_000023.10:g.153296516G>A , CM000685.1:g.153296516G>A | GRCh37 |
| NC_000023.9:g.152949710G>A | NCBI36 |
| NG_007107.2:g.111063C>T | |
| NG_007107.3:g.111039C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303391.11:c.763C>T MANE Plus Clinical | ENSP00000301948.6:p.Arg255Ter | |
| ENST00000453960.7:c.799C>T MANE Select | ENSP00000395535.2:p.Arg267Ter | |
| ENST00000637917.1:c.66-129C>T | ||
| ENST00000303391.10:c.763C>T | ENSP00000301948.6:p.Arg255Ter | |
| ENST00000407218.5:c.*135C>T | ENSP00000384865.2:n.*135C>T | |
| ENST00000453960.6:c.799C>T | ENSP00000395535.2:p.Arg267Ter | |
| ENST00000619732.4:c.763C>T | ENSP00000480973.1:p.Arg255Ter | |
| ENST00000622433.4:c.751C>T | ENSP00000484470.1:p.Arg251Ter | |
| ENST00000628176.2:c.*135C>T | ENSP00000486978.1:n.*135C>T | |
| NM_001110792.1:c.799C>T | NP_001104262.1:p.Arg267Ter | |
| NM_001316337.1:c.484C>T | NP_001303266.1:p.Arg162Ter | |
| NM_004992.3:c.763C>T | NP_004983.1:p.Arg255Ter | |
| XM_005274681.3:c.763C>T | XP_005274738.1:p.Arg255Ter | |
| XM_005274682.3:c.484C>T | XP_005274739.1:p.Arg162Ter | |
| XM_005274683.3:c.484C>T | XP_005274740.1:p.Arg162Ter | |
| XM_006724819.2:c.94C>T | XP_006724882.1:p.Arg32Ter | |
| XM_011531166.1:c.484C>T | XP_011529468.1:p.Arg162Ter | |
| XM_006724819.3:c.94C>T | XP_006724882.1:p.Arg32Ter | |
| XM_011531166.2:c.484C>T | XP_011529468.1:p.Arg162Ter | |
| XM_024452383.1:c.484C>T | XP_024308151.1:p.Arg162Ter | |
| XM_024452384.1:c.484C>T | XP_024308152.1:p.Arg162Ter | |
| NM_001110792.2:c.799C>T MANE Select | NP_001104262.1:p.Arg267Ter | |
| NM_001316337.2:c.484C>T | NP_001303266.1:p.Arg162Ter | |
| NM_001369391.2:c.484C>T | NP_001356320.1:p.Arg162Ter | |
| NM_001369392.2:c.484C>T | NP_001356321.1:p.Arg162Ter | |
| NM_001369393.2:c.484C>T | NP_001356322.1:p.Arg162Ter | |
| NM_001369394.1:c.484C>T | NP_001356323.1:p.Arg162Ter | |
| NM_001369394.2:c.484C>T | NP_001356323.1:p.Arg162Ter | |
| NM_001386137.1:c.94C>T | NP_001373066.1:p.Arg32Ter | |
| NM_001386138.1:c.94C>T | NP_001373067.1:p.Arg32Ter | |
| NM_001386139.1:c.94C>T | NP_001373068.1:p.Arg32Ter | |
| NM_004992.4:c.763C>T MANE Plus Clinical | NP_004983.1:p.Arg255Ter |