Linked Data
dbSNP Id:
rs369611929
ExAC:
12:49433067 G / C
gnomAD v2:
12-49433067-G-C
gnomAD v4:
12-49039284-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49039284G>C , CM000674.2:g.49039284G>C | GRCh38 |
| NC_000012.11:g.49433067G>C , CM000674.1:g.49433067G>C | GRCh37 |
| NC_000012.10:g.47719334G>C | NCBI36 |
| NG_027827.1:g.21041C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683043.1:n.3C>G | ||
| ENST00000683543.2:c.8304C>G | ENSP00000506726.1:p.Ser2768Arg | |
| ENST00000685166.1:c.8313C>G | ENSP00000509386.1:p.Ser2771Arg | |
| ENST00000689060.1:c.2323C>G | ||
| ENST00000689143.1:c.1977C>G | ENSP00000509839.1:p.Ser659Arg | |
| ENST00000689944.1:c.2413C>G | ||
| ENST00000692637.1:c.8301C>G | ENSP00000509666.1:p.Ser2767Arg | |
| ENST00000301067.12:c.8304C>G MANE Select | ENSP00000301067.7:p.Ser2768Arg | |
| ENST00000301067.11:c.8304C>G | ENSP00000301067.7:p.Ser2768Arg | |
| ENST00000549799.1:n.16C>G | ||
| NM_003482.3:c.8304C>G | NP_003473.3:p.Ser2768Arg | |
| XM_005269162.3:c.8304C>G | XP_005269219.1:p.Ser2768Arg | |
| XM_006719614.2:c.8313C>G | XP_006719677.1:p.Ser2771Arg | |
| XM_006719616.2:c.8301C>G | XP_006719679.1:p.Ser2767Arg | |
| XM_011538770.1:c.8313C>G | XP_011537072.1:p.Ser2771Arg | |
| XM_011538771.1:c.8310C>G | XP_011537073.1:p.Ser2770Arg | |
| XM_011538772.1:c.8304C>G | XP_011537074.1:p.Ser2768Arg | |
| XM_011538773.1:c.8301C>G | XP_011537075.1:p.Ser2767Arg | |
| XM_011538774.1:c.8292C>G | XP_011537076.1:p.Ser2764Arg | |
| XM_011538775.1:c.8313C>G | XP_011537077.1:p.Ser2771Arg | |
| XM_011538776.1:c.8220C>G | XP_011537078.1:p.Ser2740Arg | |
| XR_944740.1:n.10633C>G | ||
| XM_005269162.4:c.8304C>G | XP_005269219.1:p.Ser2768Arg | |
| XM_006719614.4:c.8313C>G | XP_006719677.1:p.Ser2771Arg | |
| XM_006719616.3:c.8301C>G | XP_006719679.1:p.Ser2767Arg | |
| XM_011538770.2:c.8313C>G | XP_011537072.1:p.Ser2771Arg | |
| XM_011538771.2:c.8310C>G | XP_011537073.1:p.Ser2770Arg | |
| XM_011538772.2:c.8304C>G | XP_011537074.1:p.Ser2768Arg | |
| XM_011538773.2:c.8301C>G | XP_011537075.1:p.Ser2767Arg | |
| XM_011538774.2:c.8292C>G | XP_011537076.1:p.Ser2764Arg | |
| XM_011538776.2:c.8220C>G | XP_011537078.1:p.Ser2740Arg | |
| XR_001748874.1:n.9622C>G | ||
| NM_003482.4:c.8304C>G MANE Select | NP_003473.3:p.Ser2768Arg |