Linked Data
dbSNP Id:
rs80359126
ExAC:
13:32950839 G / A
gnomAD v2:
13-32950839-G-A
gnomAD v4:
13-32376702-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32376702G>A , CM000675.2:g.32376702G>A | GRCh38 |
| NC_000013.10:g.32950839G>A , CM000675.1:g.32950839G>A | GRCh37 |
| NC_000013.9:g.31848839G>A | NCBI36 |
| NG_012772.3:g.66223G>A , LRG_293:g.66223G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8665G>A | ENSP00000434898.2:p.Ala2889Thr | |
| ENST00000528762.2:c.*32G>A | ENSP00000433168.2:n.*32G>A | |
| ENST00000530893.7:c.8296G>A | ENSP00000499438.2:p.Ala2766Thr | |
| ENST00000665585.2:c.*227G>A | ENSP00000499570.2:n.*227G>A | |
| ENST00000666593.2:c.8665G>A | ENSP00000499256.2:p.Ala2889Thr | |
| ENST00000700202.2:c.8665G>A | ENSP00000514856.2:p.Ala2889Thr | |
| ENST00000700202.1:c.1132G>A | ENSP00000514856.1:p.Ala378Thr | |
| ENST00000700203.1:n.792G>A | ||
| ENST00000380152.8:c.8665G>A MANE Select | ENSP00000369497.3:p.Ala2889Thr | |
| ENST00000544455.6:c.8665G>A | ENSP00000439902.1:p.Ala2889Thr | |
| ENST00000614259.2:c.8673G>A | ENSP00000506251.1:n.8673G>A | |
| ENST00000665585.1:c.1543G>A | ||
| ENST00000680887.1:c.8665G>A | ENSP00000505508.1:p.Ala2889Thr | |
| ENST00000380152.7:c.8665G>A | ENSP00000369497.3:p.Ala2889Thr | |
| ENST00000528762.1:c.227G>A | ENSP00000433168.1:n.227G>A | |
| ENST00000544455.5:c.8665G>A | ENSP00000439902.1:p.Ala2889Thr | |
| NM_000059.3:c.8665G>A , LRG_293t1:c.8665G>A | NP_000050.2:p.Ala2889Thr | |
| XM_011535203.1:c.8665G>A | XP_011533505.1:p.Ala2889Thr | |
| XM_011535204.1:c.8569G>A | XP_011533506.1:p.Ala2857Thr | |
| XM_011535205.1:c.8665G>A | XP_011533507.1:p.Ala2889Thr | |
| NM_000059.4:c.8665G>A MANE Select | NP_000050.3:p.Ala2889Thr |