Linked Data
dbSNP Id:
rs372047866
ExAC:
20:44576049 C / A
gnomAD v2:
20-44576049-C-A
gnomAD v4:
20-45947410-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45947410C>A , CM000682.2:g.45947410C>A | GRCh38 |
| NC_000020.10:g.44576049C>A , CM000682.1:g.44576049C>A | GRCh37 |
| NC_000020.9:g.44009456C>A | NCBI36 |
| NG_029772.1:g.29785G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372409.8:c.1855C>A MANE Select | ENSP00000361486.3:p.Arg619Ser | |
| ENST00000372409.7:c.1855C>A | ENSP00000361486.3:p.Arg619Ser | |
| ENST00000479348.2:c.711C>A | ||
| NM_022104.3:c.1855C>A | NP_071387.1:p.Arg619Ser | |
| XM_011528980.1:c.1855C>A | XP_011527282.1:p.Arg619Ser | |
| XM_011528981.1:c.1855C>A | XP_011527283.1:p.Arg619Ser | |
| XM_011528982.1:c.811C>A | XP_011527284.1:p.Arg271Ser | |
| XM_011528980.3:c.1855C>A | XP_011527282.1:p.Arg619Ser | |
| XM_011528981.3:c.1855C>A | XP_011527283.1:p.Arg619Ser | |
| XM_017028013.2:c.1855C>A | XP_016883502.1:p.Arg619Ser | |
| XM_017028014.2:c.811C>A | XP_016883503.1:p.Arg271Ser | |
| NM_022104.4:c.1855C>A MANE Select | NP_071387.1:p.Arg619Ser |