Linked Data
ClinVar Variation Id:
356677
dbSNP Id:
rs139607688
ExAC:
6:41127619 G / A
gnomAD v2:
6-41127619-G-A
gnomAD v3:
6-41159881-G-A
gnomAD v4:
6-41159881-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.41159881G>A , CM000668.2:g.41159881G>A | GRCh38 |
| NC_000006.11:g.41127619G>A , CM000668.1:g.41127619G>A | GRCh37 |
| NC_000006.10:g.41235597G>A | NCBI36 |
| NG_011561.1:g.8304C>T , LRG_631:g.8304C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373113.8:c.393C>T MANE Select | ENSP00000362205.3:p.Asp131= | |
| ENST00000338469.3:c.393C>T | ENSP00000342651.4:p.Asp131= | |
| ENST00000373113.7:c.393C>T | ENSP00000362205.3:p.Asp131= | |
| ENST00000373122.8:c.393C>T | ENSP00000362214.4:p.Asp131= | |
| NM_001271821.1:c.393C>T | NP_001258750.1:p.Asp131= | |
| NM_018965.3:c.393C>T , LRG_631t1:c.393C>T | NP_061838.1:p.Asp131= | |
| XM_006715116.2:c.132C>T | XP_006715179.1:p.Asp44= | |
| XR_926795.1:n.222+4318G>A | ||
| XR_926796.1:n.214+4318G>A | ||
| XR_926797.1:n.188+4318G>A | ||
| XR_926795.2:n.517+4318G>A | ||
| XR_926797.2:n.232+4318G>A | ||
| NM_001271821.2:c.393C>T | NP_001258750.1:p.Asp131= | |
| NM_018965.4:c.393C>T MANE Select | NP_061838.1:p.Asp131= |