Linked Data
ClinVar Variation Id:
309739
dbSNP Id:
rs145519240
ExAC:
12:53714366 C / T
gnomAD v2:
12-53714366-C-T
gnomAD v3:
12-53320582-C-T
gnomAD v4:
12-53320582-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53320582C>T , CM000674.2:g.53320582C>T | GRCh38 |
| NC_000012.11:g.53714366C>T , CM000674.1:g.53714366C>T | GRCh37 |
| NC_000012.10:g.52000633C>T | NCBI36 |
| NG_016775.1:g.6047G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.234G>A MANE Select | ENSP00000209873.4:p.Lys78= | |
| ENST00000546393.7:n.332G>A | ||
| ENST00000546562.6:n.251G>A | ||
| ENST00000547238.6:n.676G>A | ||
| ENST00000547520.6:n.168G>A | ||
| ENST00000547757.2:c.-619G>A | ENSP00000448020.2:n.-619G>A | |
| ENST00000548880.2:n.384G>A | ||
| ENST00000549450.6:n.168G>A | ||
| ENST00000552161.6:n.696G>A | ||
| ENST00000672797.1:n.687G>A | ||
| ENST00000209873.8:c.234G>A | ENSP00000209873.4:p.Lys78= | |
| ENST00000394384.7:c.234G>A | ENSP00000377908.3:p.Lys78= | |
| ENST00000546562.5:n.251G>A | ||
| ENST00000547238.5:n.627G>A | ||
| ENST00000547757.1:c.234G>A | ENSP00000448020.1:p.Lys78= | |
| ENST00000547761.6:n.218G>A | ||
| ENST00000548258.5:n.262G>A | ||
| ENST00000548880.1:n.329G>A | ||
| ENST00000549450.5:n.168G>A | ||
| ENST00000549821.5:n.232G>A | ||
| ENST00000549983.5:n.257G>A | ||
| ENST00000550286.5:c.-47G>A | ENSP00000446885.1:n.-47G>A | |
| ENST00000551724.5:n.284G>A | ||
| ENST00000552161.5:n.329G>A | ||
| ENST00000552876.5:n.676G>A | ||
| NM_001173466.1:c.234G>A | NP_001166937.1:p.Lys78= | |
| NM_015665.5:c.234G>A | NP_056480.1:p.Lys78= | |
| XM_006719617.2:c.249G>A | XP_006719680.1:p.Lys83= | |
| XM_006719619.2:c.249G>A | XP_006719682.1:p.Lys83= | |
| XM_011538777.1:c.249G>A | XP_011537079.1:p.Lys83= | |
| XM_011538778.1:c.234G>A | XP_011537080.1:p.Lys78= | |
| XM_011538779.1:c.249G>A | XP_011537081.1:p.Lys83= | |
| XM_011538780.1:c.234G>A | XP_011537082.1:p.Lys78= | |
| XM_011538778.2:c.234G>A | XP_011537080.1:p.Lys78= | |
| XM_011538780.2:c.234G>A | XP_011537082.1:p.Lys78= | |
| XR_001748875.2:n.354G>A | ||
| NM_015665.6:c.234G>A MANE Select | NP_056480.1:p.Lys78= | |
| NM_001173466.2:c.234G>A | NP_001166937.1:p.Lys78= |