ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.10672715T>C , CM000680.2:g.10672715T>C | GRCh38 |
| NC_000018.9:g.10672712T>C , CM000680.1:g.10672712T>C | GRCh37 |
| NC_000018.8:g.10662712T>C | NCBI36 |
| NG_034005.1:g.481048A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383408.7:c.*1422A>G | ENSP00000372900.4:n.*1422A>G | |
| ENST00000685517.1:n.3063A>G | ||
| ENST00000691469.1:n.2218A>G | ||
| ENST00000693743.1:c.1516A>G | ENSP00000510331.1:n.1516A>G | |
| ENST00000674853.1:c.8320A>G MANE Select | ENSP00000501957.1:p.Ser2774Gly | |
| ENST00000302079.10:c.7792A>G | ENSP00000303316.6:p.Ser2598Gly | |
| ENST00000383408.6:c.7834A>G | ENSP00000372900.3:p.Ser2612Gly | |
| ENST00000503781.7:c.7981A>G | ENSP00000421377.3:p.Ser2661Gly | |
| ENST00000538948.5:c.1852A>G | ENSP00000443129.1:p.Ser618Gly | |
| ENST00000580640.5:c.8056A>G | ENSP00000463094.1:p.Ser2686Gly | |
| ENST00000581680.1:n.457A>G | ||
| ENST00000582913.5:c.8187A>G | ENSP00000462115.1:n.8187A>G | |
| ENST00000582937.1:c.33A>G | ENSP00000462187.1:p.Gln11= | |
| NM_022068.3:c.7981A>G | NP_071351.2:p.Ser2661Gly | |
| XM_011525723.1:c.8113A>G | XP_011524025.1:p.Ser2705Gly | |
| XM_011525724.1:c.8056A>G | XP_011524026.1:p.Ser2686Gly | |
| XM_011525725.1:c.8023A>G | XP_011524027.1:p.Ser2675Gly | |
| XM_011525726.1:c.7930A>G | XP_011524028.1:p.Ser2644Gly | |
| XM_011525723.3:c.8113A>G | XP_011524025.1:p.Ser2705Gly | |
| XM_011525724.3:c.8056A>G | XP_011524026.1:p.Ser2686Gly | |
| XM_011525725.3:c.8023A>G | XP_011524027.1:p.Ser2675Gly | |
| XM_011525726.3:c.7930A>G | XP_011524028.1:p.Ser2644Gly | |
| XM_017025918.2:c.8074A>G | XP_016881407.1:p.Ser2692Gly | |
| NM_001378183.1:c.8320A>G MANE Select | NP_001365112.1:p.Ser2774Gly | |
| NM_022068.4:c.7981A>G | NP_071351.2:p.Ser2661Gly |