gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.45880084T>C , CM000680.2:g.45880084T>C | GRCh38 |
| NC_000018.9:g.43460049T>C , CM000680.1:g.43460049T>C | GRCh37 |
| NC_000018.8:g.41714047T>C | NCBI36 |
| NG_042838.1:g.92256A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586655.2:n.3919A>G | ||
| ENST00000587884.2:c.5784A>G | ENSP00000466990.2:n.5784A>G | |
| ENST00000587973.2:n.1523A>G | ||
| ENST00000590884.6:c.5602A>G | ENSP00000466403.2:n.5602A>G | |
| ENST00000592272.6:c.5658A>G | ENSP00000467464.2:p.Ser1886= | |
| ENST00000696481.1:n.2290A>G | ||
| ENST00000696482.1:c.5398A>G | ENSP00000512656.1:n.5398A>G | |
| ENST00000696483.1:c.5658A>G | ENSP00000512657.1:p.Ser1886= | |
| ENST00000696484.1:c.5658A>G | ENSP00000512658.1:p.Ser1886= | |
| ENST00000696485.1:c.*253A>G | ENSP00000512659.1:n.*253A>G | |
| ENST00000696489.1:c.5658A>G | ENSP00000512660.1:p.Ser1886= | |
| ENST00000696490.1:c.5658A>G | ENSP00000512661.1:p.Ser1886= | |
| ENST00000282041.11:c.5658A>G MANE Select | ENSP00000282041.4:p.Ser1886= | |
| ENST00000282041.9:c.5658A>G | ENSP00000282041.4:p.Ser1886= | |
| ENST00000585906.5:n.2437A>G | ||
| ENST00000587884.1:c.*1398A>G | ENSP00000466990.1:n.*1398A>G | |
| ENST00000590884.5:c.*253A>G | ENSP00000466403.1:n.*253A>G | |
| ENST00000592272.5:c.2283A>G | ENSP00000467464.1:p.Ser761= | |
| NM_020964.2:c.5658A>G | NP_066015.2:p.Ser1886= | |
| XM_011526120.1:c.5685A>G | XP_011524422.1:p.Ser1895= | |
| XM_011526121.1:c.5685A>G | XP_011524423.1:p.Ser1895= | |
| XM_011526122.1:c.5658A>G | XP_011524424.1:p.Ser1886= | |
| XM_011526123.1:c.5685A>G | XP_011524425.1:p.Ser1895= | |
| XM_011526124.1:c.5685A>G | XP_011524426.1:p.Ser1895= | |
| XM_011526125.1:c.5544A>G | XP_011524427.1:p.Ser1848= | |
| XM_011526126.1:c.4620A>G | XP_011524428.1:p.Ser1540= | |
| XM_011526127.1:c.5685A>G | XP_011524429.1:p.Ser1895= | |
| XR_935244.1:n.5758A>G | ||
| NM_020964.3:c.5658A>G MANE Select | NP_066015.2:p.Ser1886= | |
| XM_017025889.1:c.5658A>G | XP_016881378.1:p.Ser1886= | |
| XM_017025890.2:c.5658A>G | XP_016881379.1:p.Ser1886= | |
| XM_017025891.1:c.5517A>G | XP_016881380.1:p.Ser1839= | |
| XM_017025892.1:c.4593A>G | XP_016881381.1:p.Ser1531= | |
| XM_017025893.1:c.2283A>G | XP_016881382.1:p.Ser761= | |
| XR_001753256.1:n.5740A>G | ||
| XR_001753257.1:n.5684A>G |