Linked Data
ClinVar Variation Id:
52822
dbSNP Id:
rs80359208
ExAC:
13:32968936 A / G
gnomAD v2:
13-32968936-A-G
gnomAD v4:
13-32394799-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32394799A>G , CM000675.2:g.32394799A>G | GRCh38 |
| NC_000013.10:g.32968936A>G , CM000675.1:g.32968936A>G | GRCh37 |
| NC_000013.9:g.31866936A>G | NCBI36 |
| NG_012772.3:g.84320A>G , LRG_293:g.84320A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9367A>G | ENSP00000434898.2:p.Ser3123Gly | |
| ENST00000528762.2:c.*734A>G | ENSP00000433168.2:n.*734A>G | |
| ENST00000530893.7:c.8998A>G | ENSP00000499438.2:p.Ser3000Gly | |
| ENST00000665585.2:c.*929A>G | ENSP00000499570.2:n.*929A>G | |
| ENST00000666593.2:c.*212A>G | ENSP00000499256.2:n.*212A>G | |
| ENST00000700202.2:c.9316A>G | ENSP00000514856.2:p.Ser3106Gly | |
| ENST00000700202.1:c.1783A>G | ENSP00000514856.1:p.Ser595Gly | |
| ENST00000700203.1:n.1494A>G | ||
| ENST00000380152.8:c.9367A>G MANE Select | ENSP00000369497.3:p.Ser3123Gly | |
| ENST00000544455.6:c.9367A>G | ENSP00000439902.1:p.Ser3123Gly | |
| ENST00000614259.2:c.9375A>G | ENSP00000506251.1:n.9375A>G | |
| ENST00000665585.1:c.2245A>G | ||
| ENST00000666593.1:c.389A>G | ENSP00000499256.1:n.389A>G | |
| ENST00000680887.1:c.9367A>G | ENSP00000505508.1:p.Ser3123Gly | |
| ENST00000380152.7:c.9367A>G | ENSP00000369497.3:p.Ser3123Gly | |
| ENST00000470094.1:c.324A>G | ||
| ENST00000544455.5:c.9367A>G | ENSP00000439902.1:p.Ser3123Gly | |
| NM_000059.3:c.9367A>G , LRG_293t1:c.9367A>G | NP_000050.2:p.Ser3123Gly | |
| XM_011535203.1:c.9367A>G | XP_011533505.1:p.Ser3123Gly | |
| XM_011535204.1:c.9271A>G | XP_011533506.1:p.Ser3091Gly | |
| NM_000059.4:c.9367A>G MANE Select | NP_000050.3:p.Ser3123Gly |