Linked Data
ClinVar Variation Id:
156179
ClinVar RCV Id:
RCV000144196
RCV000236803
RCV000545556
RCV000580829
RCV000586031
RCV002465535
RCV003492633
dbSNP Id:
rs574271678
ExAC:
13:32968826 G / C
gnomAD v2:
13-32968826-G-C
gnomAD v3:
13-32394689-G-C
gnomAD v4:
13-32394689-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32394689G>C , CM000675.2:g.32394689G>C | GRCh38 |
| NC_000013.10:g.32968826G>C , CM000675.1:g.32968826G>C | GRCh37 |
| NC_000013.9:g.31866826G>C | NCBI36 |
| NG_012772.3:g.84210G>C , LRG_293:g.84210G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9257G>C | ENSP00000434898.2:p.Gly3086Ala | |
| ENST00000528762.2:c.*624G>C | ENSP00000433168.2:n.*624G>C | |
| ENST00000530893.7:c.8888G>C | ENSP00000499438.2:p.Gly2963Ala | |
| ENST00000665585.2:c.*819G>C | ENSP00000499570.2:n.*819G>C | |
| ENST00000666593.2:c.*102G>C | ENSP00000499256.2:n.*102G>C | |
| ENST00000700202.2:c.9206G>C | ENSP00000514856.2:p.Gly3069Ala | |
| ENST00000700202.1:c.1673G>C | ENSP00000514856.1:p.Gly558Ala | |
| ENST00000700203.1:n.1384G>C | ||
| ENST00000380152.8:c.9257G>C MANE Select | ENSP00000369497.3:p.Gly3086Ala | |
| ENST00000544455.6:c.9257G>C | ENSP00000439902.1:p.Gly3086Ala | |
| ENST00000614259.2:c.9265G>C | ENSP00000506251.1:n.9265G>C | |
| ENST00000665585.1:c.2135G>C | ||
| ENST00000666593.1:c.279G>C | ENSP00000499256.1:n.279G>C | |
| ENST00000680887.1:c.9257G>C | ENSP00000505508.1:p.Gly3086Ala | |
| ENST00000380152.7:c.9257G>C | ENSP00000369497.3:p.Gly3086Ala | |
| ENST00000470094.1:c.214G>C | ||
| ENST00000544455.5:c.9257G>C | ENSP00000439902.1:p.Gly3086Ala | |
| NM_000059.3:c.9257G>C , LRG_293t1:c.9257G>C | NP_000050.2:p.Gly3086Ala | |
| XM_011535203.1:c.9257G>C | XP_011533505.1:p.Gly3086Ala | |
| XM_011535204.1:c.9161G>C | XP_011533506.1:p.Gly3054Ala | |
| NM_000059.4:c.9257G>C MANE Select | NP_000050.3:p.Gly3086Ala |