Linked Data
ClinVar Variation Id:
526635
dbSNP Id:
rs71310379
ExAC:
3:178916791 C / A
gnomAD v2:
3-178916791-C-A
gnomAD v3:
3-179199003-C-A
gnomAD v4:
3-179199003-C-A
COSMIC:
COSM12579
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179199003C>A , CM000665.2:g.179199003C>A | GRCh38 |
| NC_000003.11:g.178916791C>A , CM000665.1:g.178916791C>A | GRCh37 |
| NC_000003.10:g.180399485C>A | NCBI36 |
| NG_012113.2:g.55481C>A , LRG_310:g.55481C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.178C>A MANE Select | ENSP00000263967.3:p.Gln60Lys | |
| ENST00000643187.1:c.178C>A | ENSP00000493507.1:p.Gln60Lys | |
| ENST00000675467.1:n.2985C>A | ||
| ENST00000675786.1:c.178C>A | ENSP00000502323.1:p.Gln60Lys | |
| ENST00000263967.3:c.178C>A | ENSP00000263967.3:p.Gln60Lys | |
| ENST00000468036.1:c.178C>A | ENSP00000417479.1:p.Gln60Lys | |
| NM_006218.2:c.178C>A , LRG_310t1:c.178C>A | NP_006209.2:p.Gln60Lys | |
| XM_006713658.2:c.178C>A | XP_006713721.1:p.Gln60Lys | |
| XM_011512894.1:c.178C>A | XP_011511196.1:p.Gln60Lys | |
| NM_006218.3:c.178C>A | NP_006209.2:p.Gln60Lys | |
| XM_006713658.4:c.178C>A | XP_006713721.1:p.Gln60Lys | |
| XM_011512894.2:c.178C>A | XP_011511196.1:p.Gln60Lys | |
| NM_006218.4:c.178C>A MANE Select | NP_006209.2:p.Gln60Lys |