Linked Data
ClinVar Variation Id:
286110
dbSNP Id:
rs146156426
ExAC:
12:124229275 G / A
gnomAD v2:
12-124229275-G-A
gnomAD v3:
12-123744728-G-A
gnomAD v4:
12-123744728-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123744728G>A , CM000674.2:g.123744728G>A | GRCh38 |
| NC_000012.11:g.124229275G>A , CM000674.1:g.124229275G>A | GRCh37 |
| NC_000012.10:g.122795228G>A | NCBI36 |
| NG_012743.1:g.37411G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330342.8:c.1458G>A MANE Select | ENSP00000332247.2:p.Ser486= | |
| ENST00000540368.6:n.1489G>A | ||
| ENST00000674794.1:c.1546G>A | ||
| ENST00000675260.1:n.733G>A | ||
| ENST00000675344.1:c.*479G>A | ENSP00000501953.1:n.*479G>A | |
| ENST00000330342.7:c.1458G>A | ENSP00000332247.2:p.Ser486= | |
| ENST00000536426.1:n.475G>A | ||
| ENST00000545059.5:n.4094G>A | ||
| NM_012463.3:c.1458G>A | NP_036595.2:p.Ser486= | |
| XM_005253563.1:c.1458G>A | XP_005253620.1:p.Ser486= | |
| XM_006719317.2:c.945G>A | XP_006719380.1:p.Ser315= | |
| XM_006719318.2:c.636G>A | XP_006719381.1:p.Ser212= | |
| XR_429088.1:n.1621G>A | ||
| XM_024448910.1:c.1458G>A | XP_024304678.1:p.Ser486= | |
| XM_024448911.1:c.945G>A | XP_024304679.1:p.Ser315= | |
| XM_024448912.1:c.636G>A | XP_024304680.1:p.Ser212= | |
| NM_012463.4:c.1458G>A MANE Select | NP_036595.2:p.Ser486= |