Linked Data
ClinVar Variation Id:
307549
dbSNP Id:
rs201545344
ExAC:
12:124171406 G / A
gnomAD v2:
12-124171406-G-A
gnomAD v3:
12-123686859-G-A
gnomAD v4:
12-123686859-G-A
COSMIC:
COSM936474
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123686859G>A , CM000674.2:g.123686859G>A | GRCh38 |
| NC_000012.11:g.124171406G>A , CM000674.1:g.124171406G>A | GRCh37 |
| NC_000012.10:g.122737359G>A | NCBI36 |
| NG_030442.1:g.20747G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303372.7:c.588G>A MANE Select | ENSP00000304941.5:p.Thr196= | |
| ENST00000679504.1:c.585G>A | ENSP00000505006.1:p.Thr195= | |
| ENST00000680500.1:c.588G>A | ENSP00000506438.1:p.Thr196= | |
| ENST00000680574.1:c.588G>A | ENSP00000505356.1:p.Thr196= | |
| ENST00000303372.6:c.588G>A | ENSP00000304941.5:p.Thr196= | |
| ENST00000426174.6:c.585G>A | ENSP00000395171.2:p.Thr195= | |
| NM_001143850.2:c.585G>A | NP_001137322.1:p.Thr195= | |
| NM_024809.4:c.588G>A | NP_079085.2:p.Thr196= | |
| XM_005253623.2:c.588G>A | XP_005253680.1:p.Thr196= | |
| XM_006719605.2:c.588G>A | XP_006719668.1:p.Thr196= | |
| XM_006719605.3:c.588G>A | XP_006719668.1:p.Thr196= | |
| XM_017019974.1:c.585G>A | XP_016875463.1:p.Thr195= | |
| XM_017019975.1:c.-198G>A | XP_016875464.1:n.-198G>A | |
| NM_024809.5:c.588G>A MANE Select | NP_079085.2:p.Thr196= | |
| NM_001143850.3:c.585G>A | NP_001137322.1:p.Thr195= |