gnomAD v3:
gnomAD v4:
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132129886C>A , CM000670.2:g.132129886C>A | GRCh38 |
| NC_000008.10:g.133142133C>A , CM000670.1:g.133142133C>A | GRCh37 |
| NC_000008.9:g.133211315C>A | NCBI36 |
| NG_008854.2:g.355872G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388996.10:c.1995G>T MANE Select | ENSP00000373648.3:p.Ser665= | |
| ENST00000521134.6:c.1635G>T | ENSP00000429799.1:p.Ser545= | |
| ENST00000638588.1:c.1668G>T | ENSP00000491940.1:p.Ser556= | |
| ENST00000639496.1:c.*619G>T | ENSP00000491165.1:n.*619G>T | |
| ENST00000388996.8:c.1995G>T | ENSP00000373648.3:p.Ser665= | |
| ENST00000519445.5:c.1959G>T | ENSP00000428790.1:p.Ser653= | |
| ENST00000519589.1:n.2723G>T | ||
| ENST00000521134.5:c.1635G>T | ENSP00000429799.1:p.Ser545= | |
| ENST00000621976.1:c.1632G>T | ENSP00000482510.1:p.Ser544= | |
| NM_001204824.1:c.1635G>T | NP_001191753.1:p.Ser545= | |
| NM_004519.3:c.1995G>T | NP_004510.1:p.Ser665= | |
| XM_005250914.2:c.750G>T | XP_005250971.1:p.Ser250= | |
| XM_006716555.2:c.1287G>T | XP_006716618.1:p.Ser429= | |
| XM_011517026.1:c.1635G>T | XP_011515328.1:p.Ser545= | |
| XM_005250914.3:c.750G>T | XP_005250971.1:p.Ser250= | |
| XM_006716555.3:c.1287G>T | XP_006716618.1:p.Ser429= | |
| XM_011517026.2:c.1635G>T | XP_011515328.1:p.Ser545= | |
| XM_017013400.1:c.1773G>T | XP_016868889.1:p.Ser591= | |
| NM_004519.4:c.1995G>T MANE Select | NP_004510.1:p.Ser665= | |
| NM_001204824.2:c.1635G>T | NP_001191753.1:p.Ser545= |