Linked Data
dbSNP Id:
rs754699274
ExAC:
21:47558540 T / G
gnomAD v2:
21-47558540-T-G
gnomAD v4:
21-46138626-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46138626T>G , CM000683.2:g.46138626T>G | GRCh38 |
| NC_000021.8:g.47558540T>G , CM000683.1:g.47558540T>G | GRCh37 |
| NC_000021.7:g.46382968T>G | NCBI36 |
| NG_016191.1:g.21942A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460011.6:c.-140A>C | ENSP00000507070.1:n.-140A>C | |
| ENST00000494498.2:c.59A>C | ENSP00000507847.1:p.Glu20Ala | |
| ENST00000397746.8:c.1325A>C MANE Select | ENSP00000380854.3:p.Glu442Ala | |
| ENST00000291670.9:c.1325A>C | ENSP00000291670.5:p.Glu442Ala | |
| ENST00000397743.1:c.1281A>C | ENSP00000380851.1:p.Gly427= | |
| ENST00000397746.7:c.1325A>C | ENSP00000380854.3:p.Glu442Ala | |
| ENST00000397748.5:c.1325A>C | ENSP00000380856.1:p.Glu442Ala | |
| ENST00000460011.5:n.654A>C | ||
| ENST00000488577.1:n.351A>C | ||
| ENST00000494498.1:n.626A>C | ||
| ENST00000498355.6:n.1394A>C | ||
| NM_006657.2:c.1325A>C | NP_006648.1:p.Glu442Ala | |
| NM_206965.1:c.1325A>C | NP_996848.1:p.Glu442Ala | |
| XM_006723961.2:c.1574A>C | XP_006724024.2:p.Glu525Ala | |
| XM_006723962.2:c.1574A>C | XP_006724025.2:p.Glu525Ala | |
| XM_011529434.1:c.1574A>C | XP_011527736.1:p.Glu525Ala | |
| XM_011529435.1:c.1445A>C | XP_011527737.1:p.Glu482Ala | |
| XM_011529436.1:c.1574A>C | XP_011527738.1:p.Glu525Ala | |
| XM_011529437.1:c.1574A>C | XP_011527739.1:p.Glu525Ala | |
| XM_011529438.1:c.1445A>C | XP_011527740.1:p.Glu482Ala | |
| XM_011529439.1:c.1061A>C | XP_011527741.1:p.Glu354Ala | |
| XR_937433.1:n.1757A>C | ||
| NM_001320412.1:c.1325A>C | NP_001307341.1:p.Glu442Ala | |
| XM_006723961.4:c.1574A>C | XP_006724024.2:p.Glu525Ala | |
| XM_006723962.4:c.1574A>C | XP_006724025.2:p.Glu525Ala | |
| XM_011529434.3:c.1574A>C | XP_011527736.1:p.Glu525Ala | |
| XM_011529435.3:c.1445A>C | XP_011527737.1:p.Glu482Ala | |
| XM_011529436.3:c.1574A>C | XP_011527738.1:p.Glu525Ala | |
| XM_011529437.3:c.1574A>C | XP_011527739.1:p.Glu525Ala | |
| XM_011529439.2:c.1061A>C | XP_011527741.1:p.Glu354Ala | |
| XR_937433.3:n.1791A>C | ||
| NM_206965.2:c.1325A>C MANE Select | NP_996848.1:p.Glu442Ala | |
| NM_001320412.2:c.1325A>C | NP_001307341.1:p.Glu442Ala | |
| NM_006657.3:c.1325A>C | NP_006648.1:p.Glu442Ala |