Linked Data
ClinVar Variation Id:
307598
dbSNP Id:
rs535703391
ExAC:
12:124242513 C / G
gnomAD v2:
12-124242513-C-G
gnomAD v3:
12-123757966-C-G
gnomAD v4:
12-123757966-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123757966C>G , CM000674.2:g.123757966C>G | GRCh38 |
| NC_000012.11:g.124242513C>G , CM000674.1:g.124242513C>G | GRCh37 |
| NC_000012.10:g.122808466C>G | NCBI36 |
| NG_012743.1:g.50649C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330342.8:c.2505C>G MANE Select | ENSP00000332247.2:p.Thr835= | |
| ENST00000675344.1:c.*1526C>G | ENSP00000501953.1:n.*1526C>G | |
| ENST00000330342.7:c.2505C>G | ENSP00000332247.2:p.Thr835= | |
| ENST00000534943.5:c.345C>G | ENSP00000443726.1:p.Thr115= | |
| ENST00000543687.1:n.700C>G | ||
| ENST00000544833.1:c.351C>G | ENSP00000441143.1:p.Thr117= | |
| NM_012463.3:c.2505C>G | NP_036595.2:p.Thr835= | |
| XM_005253563.1:c.2385C>G | XP_005253620.1:p.Thr795= | |
| XM_006719317.2:c.1992C>G | XP_006719380.1:p.Thr664= | |
| XM_006719318.2:c.1683C>G | XP_006719381.1:p.Thr561= | |
| XR_429088.1:n.2668C>G | ||
| XM_024448910.1:c.2385C>G | XP_024304678.1:p.Thr795= | |
| XM_024448911.1:c.1992C>G | XP_024304679.1:p.Thr664= | |
| XM_024448912.1:c.1683C>G | XP_024304680.1:p.Thr561= | |
| NM_012463.4:c.2505C>G MANE Select | NP_036595.2:p.Thr835= |