Linked Data
ClinVar Variation Id:
128056
ClinVar RCV Id:
RCV000115996
RCV000200982
RCV000199565
RCV000587890
RCV000515311
RCV001269492
RCV001356041
RCV001294021
RCV001798350
RCV001147975
RCV004528803
RCV003492502
RCV003483481
dbSNP Id:
rs200050883
ExAC:
22:29091178 C / A
gnomAD v2:
22-29091178-C-A
gnomAD v3:
22-28695190-C-A
gnomAD v4:
22-28695190-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28695190C>A , CM000684.2:g.28695190C>A | GRCh38 |
| NC_000022.10:g.29091178C>A , CM000684.1:g.29091178C>A | GRCh37 |
| NC_000022.9:g.27421178C>A | NCBI36 |
| NG_008150.1:g.51645G>T | |
| NG_008150.2:g.51677G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.*47G>T | ENSP00000518557.1:n.*47G>T | |
| ENST00000402731.6:c.1111G>T | ENSP00000384835.2:p.Asp371Tyr | |
| ENST00000404276.6:c.1312G>T MANE Select | ENSP00000385747.1:p.Asp438Tyr | |
| ENST00000425190.7:c.649G>T | ENSP00000390244.2:p.Asp217Tyr | |
| ENST00000464581.6:c.652G>T | ENSP00000483777.2:p.Asp218Tyr | |
| ENST00000648295.1:n.864G>T | ||
| ENST00000649563.1:c.649G>T | ENSP00000496928.1:p.Asp217Tyr | |
| ENST00000650281.1:c.1312G>T | ENSP00000497000.1:p.Asp438Tyr | |
| ENST00000328354.10:c.1312G>T | ENSP00000329178.6:p.Asp438Tyr | |
| ENST00000348295.7:c.1225G>T | ENSP00000329012.5:p.Asp409Tyr | |
| ENST00000382580.6:c.1441G>T | ENSP00000372023.2:p.Asp481Tyr | |
| ENST00000402731.5:c.1225G>T | ENSP00000384835.1:p.Asp409Tyr | |
| ENST00000403642.5:c.1039G>T | ENSP00000384919.1:p.Asp347Tyr | |
| ENST00000404276.5:c.1312G>T | ENSP00000385747.1:p.Asp438Tyr | |
| ENST00000405598.5:c.1312G>T | ENSP00000386087.1:p.Asp438Tyr | |
| ENST00000416671.5:c.*802G>T | ENSP00000402225.1:n.*802G>T | |
| ENST00000417588.5:c.1221G>T | ENSP00000412901.1:n.1221G>T | |
| ENST00000433728.5:c.1250G>T | ENSP00000404400.1:n.1250G>T | |
| ENST00000434810.5:c.510G>T | ||
| ENST00000448511.5:c.1202G>T | ENSP00000404567.1:n.1202G>T | |
| ENST00000456369.5:c.263+4648G>T | ||
| NM_001005735.1:c.1441G>T | NP_001005735.1:p.Asp481Tyr | |
| NM_001257387.1:c.649G>T | NP_001244316.1:p.Asp217Tyr | |
| NM_007194.3:c.1312G>T | NP_009125.1:p.Asp438Tyr | |
| NM_145862.2:c.1225G>T | NP_665861.1:p.Asp409Tyr | |
| XM_006724114.2:c.832G>T | XP_006724177.1:p.Asp278Tyr | |
| XM_006724116.2:c.769G>T | XP_006724179.2:p.Asp257Tyr | |
| XM_011529839.1:c.1471G>T | XP_011528141.1:p.Asp491Tyr | |
| XM_011529840.1:c.1384G>T | XP_011528142.1:p.Asp462Tyr | |
| XM_011529841.1:c.1240G>T | XP_011528143.1:p.Asp414Tyr | |
| XM_011529842.1:c.1141G>T | XP_011528144.1:p.Asp381Tyr | |
| XM_011529843.1:c.1111G>T | XP_011528145.1:p.Asp371Tyr | |
| XM_011529845.1:c.649G>T | XP_011528147.1:p.Asp217Tyr | |
| XR_937805.1:n.1471G>T | ||
| NM_001349956.1:c.1111G>T | NP_001336885.1:p.Asp371Tyr | |
| NM_007194.4:c.1312G>T MANE Select | NP_009125.1:p.Asp438Tyr | |
| XM_006724114.3:c.865G>T | XP_006724177.2:p.Asp289Tyr | |
| XM_011529839.2:c.1471G>T | XP_011528141.1:p.Asp491Tyr | |
| XM_011529840.3:c.1384G>T | XP_011528142.1:p.Asp462Tyr | |
| XM_011529842.2:c.1141G>T | XP_011528144.1:p.Asp381Tyr | |
| XM_011529845.2:c.649G>T | XP_011528147.1:p.Asp217Tyr | |
| XM_017028560.1:c.1435G>T | XP_016884049.1:p.Asp479Tyr | |
| XM_017028561.2:c.649G>T | XP_016884050.1:p.Asp217Tyr | |
| XM_024452148.1:c.1342G>T | XP_024307916.1:p.Asp448Tyr | |
| XM_024452149.1:c.1255G>T | XP_024307917.1:p.Asp419Tyr | |
| XR_937805.2:n.1482G>T | ||
| NM_001005735.2:c.1441G>T | NP_001005735.1:p.Asp481Tyr | |
| NM_001257387.2:c.649G>T | NP_001244316.1:p.Asp217Tyr | |
| NM_001349956.2:c.1111G>T | NP_001336885.1:p.Asp371Tyr |