Linked Data
dbSNP Id:
rs775837925
ExAC:
21:47558446 G / A
gnomAD v2:
21-47558446-G-A
gnomAD v4:
21-46138532-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46138532G>A , CM000683.2:g.46138532G>A | GRCh38 |
| NC_000021.8:g.47558446G>A , CM000683.1:g.47558446G>A | GRCh37 |
| NC_000021.7:g.46382874G>A | NCBI36 |
| NG_016191.1:g.22036C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460011.6:c.-46C>T | ENSP00000507070.1:n.-46C>T | |
| ENST00000494498.2:c.153C>T | ENSP00000507847.1:p.Asn51= | |
| ENST00000397746.8:c.1419C>T MANE Select | ENSP00000380854.3:p.Asn473= | |
| ENST00000291670.9:c.1419C>T | ENSP00000291670.5:p.Asn473= | |
| ENST00000397743.1:c.1375C>T | ENSP00000380851.1:p.Pro459Ser | |
| ENST00000397746.7:c.1419C>T | ENSP00000380854.3:p.Asn473= | |
| ENST00000397748.5:c.1419C>T | ENSP00000380856.1:p.Asn473= | |
| ENST00000446405.5:c.41C>T | ||
| ENST00000460011.5:n.748C>T | ||
| ENST00000488577.1:n.445C>T | ||
| ENST00000494498.1:n.720C>T | ||
| ENST00000498355.6:n.1488C>T | ||
| NM_006657.2:c.1419C>T | NP_006648.1:p.Asn473= | |
| NM_206965.1:c.1419C>T | NP_996848.1:p.Asn473= | |
| XM_006723961.2:c.1668C>T | XP_006724024.2:p.Asn556= | |
| XM_006723962.2:c.1668C>T | XP_006724025.2:p.Asn556= | |
| XM_011529434.1:c.1668C>T | XP_011527736.1:p.Asn556= | |
| XM_011529435.1:c.1539C>T | XP_011527737.1:p.Asn513= | |
| XM_011529436.1:c.1668C>T | XP_011527738.1:p.Asn556= | |
| XM_011529437.1:c.1668C>T | XP_011527739.1:p.Asn556= | |
| XM_011529438.1:c.1539C>T | XP_011527740.1:p.Asn513= | |
| XM_011529439.1:c.1155C>T | XP_011527741.1:p.Asn385= | |
| XR_937433.1:n.1851C>T | ||
| NM_001320412.1:c.1419C>T | NP_001307341.1:p.Asn473= | |
| XM_006723961.4:c.1668C>T | XP_006724024.2:p.Asn556= | |
| XM_006723962.4:c.1668C>T | XP_006724025.2:p.Asn556= | |
| XM_011529434.3:c.1668C>T | XP_011527736.1:p.Asn556= | |
| XM_011529435.3:c.1539C>T | XP_011527737.1:p.Asn513= | |
| XM_011529436.3:c.1668C>T | XP_011527738.1:p.Asn556= | |
| XM_011529437.3:c.1668C>T | XP_011527739.1:p.Asn556= | |
| XM_011529439.2:c.1155C>T | XP_011527741.1:p.Asn385= | |
| XR_937433.3:n.1885C>T | ||
| NM_206965.2:c.1419C>T MANE Select | NP_996848.1:p.Asn473= | |
| NM_001320412.2:c.1419C>T | NP_001307341.1:p.Asn473= | |
| NM_006657.3:c.1419C>T | NP_006648.1:p.Asn473= |