Linked Data
ClinVar Variation Id:
38229
ClinVar RCV Id:
RCV000031812
RCV000045784
RCV000074562
RCV000131041
RCV000210096
RCV000465472
RCV000763331
dbSNP Id:
rs80359200
ExAC:
13:32968863 C / G
gnomAD v2:
13-32968863-C-G
gnomAD v3:
13-32394726-C-G
gnomAD v4:
13-32394726-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32394726C>G , CM000675.2:g.32394726C>G | GRCh38 |
| NC_000013.10:g.32968863C>G , CM000675.1:g.32968863C>G | GRCh37 |
| NC_000013.9:g.31866863C>G | NCBI36 |
| NG_012772.3:g.84247C>G , LRG_293:g.84247C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9294C>G | ENSP00000434898.2:p.Tyr3098Ter | |
| ENST00000528762.2:c.*661C>G | ENSP00000433168.2:n.*661C>G | |
| ENST00000530893.7:c.8925C>G | ENSP00000499438.2:p.Tyr2975Ter | |
| ENST00000665585.2:c.*856C>G | ENSP00000499570.2:n.*856C>G | |
| ENST00000666593.2:c.*139C>G | ENSP00000499256.2:n.*139C>G | |
| ENST00000700202.2:c.9243C>G | ENSP00000514856.2:p.Tyr3081Ter | |
| ENST00000700202.1:c.1710C>G | ENSP00000514856.1:p.Tyr570Ter | |
| ENST00000700203.1:n.1421C>G | ||
| ENST00000380152.8:c.9294C>G MANE Select | ENSP00000369497.3:p.Tyr3098Ter | |
| ENST00000544455.6:c.9294C>G | ENSP00000439902.1:p.Tyr3098Ter | |
| ENST00000614259.2:c.9302C>G | ENSP00000506251.1:n.9302C>G | |
| ENST00000665585.1:c.2172C>G | ||
| ENST00000666593.1:c.316C>G | ENSP00000499256.1:n.316C>G | |
| ENST00000680887.1:c.9294C>G | ENSP00000505508.1:p.Tyr3098Ter | |
| ENST00000380152.7:c.9294C>G | ENSP00000369497.3:p.Tyr3098Ter | |
| ENST00000470094.1:c.251C>G | ||
| ENST00000544455.5:c.9294C>G | ENSP00000439902.1:p.Tyr3098Ter | |
| NM_000059.3:c.9294C>G , LRG_293t1:c.9294C>G | NP_000050.2:p.Tyr3098Ter | |
| XM_011535203.1:c.9294C>G | XP_011533505.1:p.Tyr3098Ter | |
| XM_011535204.1:c.9198C>G | XP_011533506.1:p.Tyr3066Ter | |
| NM_000059.4:c.9294C>G MANE Select | NP_000050.3:p.Tyr3098Ter |