Linked Data
ClinVar Variation Id:
3097379
ClinVar RCV Id:
RCV004387213
dbSNP Id:
rs539095795
ExAC:
21:47558435 C / T
gnomAD v2:
21-47558435-C-T
gnomAD v3:
21-46138521-C-T
gnomAD v4:
21-46138521-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46138521C>T , CM000683.2:g.46138521C>T | GRCh38 |
| NC_000021.8:g.47558435C>T , CM000683.1:g.47558435C>T | GRCh37 |
| NC_000021.7:g.46382863C>T | NCBI36 |
| NG_016191.1:g.22047G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460011.6:c.-35G>A | ENSP00000507070.1:n.-35G>A | |
| ENST00000494498.2:c.164G>A | ENSP00000507847.1:p.Arg55Gln | |
| ENST00000397746.8:c.1430G>A MANE Select | ENSP00000380854.3:p.Arg477Gln | |
| ENST00000291670.9:c.1430G>A | ENSP00000291670.5:p.Arg477Gln | |
| ENST00000397743.1:c.1386G>A | ENSP00000380851.1:p.Pro462= | |
| ENST00000397746.7:c.1430G>A | ENSP00000380854.3:p.Arg477Gln | |
| ENST00000397748.5:c.1430G>A | ENSP00000380856.1:p.Arg477Gln | |
| ENST00000446405.5:c.52G>A | ||
| ENST00000460011.5:n.759G>A | ||
| ENST00000494498.1:n.731G>A | ||
| ENST00000498355.6:n.1499G>A | ||
| NM_006657.2:c.1430G>A | NP_006648.1:p.Arg477Gln | |
| NM_206965.1:c.1430G>A | NP_996848.1:p.Arg477Gln | |
| XM_006723961.2:c.1679G>A | XP_006724024.2:p.Arg560Gln | |
| XM_006723962.2:c.1679G>A | XP_006724025.2:p.Arg560Gln | |
| XM_011529434.1:c.1679G>A | XP_011527736.1:p.Arg560Gln | |
| XM_011529435.1:c.1550G>A | XP_011527737.1:p.Arg517Gln | |
| XM_011529436.1:c.1679G>A | XP_011527738.1:p.Arg560Gln | |
| XM_011529437.1:c.1679G>A | XP_011527739.1:p.Arg560Gln | |
| XM_011529438.1:c.1550G>A | XP_011527740.1:p.Arg517Gln | |
| XM_011529439.1:c.1166G>A | XP_011527741.1:p.Arg389Gln | |
| XR_937433.1:n.1862G>A | ||
| NM_001320412.1:c.1430G>A | NP_001307341.1:p.Arg477Gln | |
| XM_006723961.4:c.1679G>A | XP_006724024.2:p.Arg560Gln | |
| XM_006723962.4:c.1679G>A | XP_006724025.2:p.Arg560Gln | |
| XM_011529434.3:c.1679G>A | XP_011527736.1:p.Arg560Gln | |
| XM_011529435.3:c.1550G>A | XP_011527737.1:p.Arg517Gln | |
| XM_011529436.3:c.1679G>A | XP_011527738.1:p.Arg560Gln | |
| XM_011529437.3:c.1679G>A | XP_011527739.1:p.Arg560Gln | |
| XM_011529439.2:c.1166G>A | XP_011527741.1:p.Arg389Gln | |
| XR_937433.3:n.1896G>A | ||
| NM_206965.2:c.1430G>A MANE Select | NP_996848.1:p.Arg477Gln | |
| NM_001320412.2:c.1430G>A | NP_001307341.1:p.Arg477Gln | |
| NM_006657.3:c.1430G>A | NP_006648.1:p.Arg477Gln |