Linked Data
dbSNP Id:
rs4822983
gnomAD v2:
22-29115066-C-T
gnomAD v3:
22-28719078-C-T
gnomAD v4:
22-28719078-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28719078C>T , CM000684.2:g.28719078C>T | GRCh38 |
| NC_000022.10:g.29115066C>T , CM000684.1:g.29115066C>T | GRCh37 |
| NC_000022.9:g.27445066C>T | NCBI36 |
| NG_008150.1:g.27757G>A | |
| NG_008150.2:g.27789G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000439346.6:c.592+5899G>A | ENSP00000396903.2:n.592+5899G>A | |
| ENST00000711048.1:c.683+317G>A | ENSP00000518557.1:n.683+317G>A | |
| ENST00000402731.6:c.482+5808G>A | ENSP00000384835.2:n.482+5808G>A | |
| ENST00000404276.6:c.683+317G>A MANE Select | ENSP00000385747.1:n.683+317G>A | |
| ENST00000425190.7:c.20+317G>A | ENSP00000390244.2:n.20+317G>A | |
| ENST00000649563.1:c.20+317G>A | ENSP00000496928.1:n.20+317G>A | |
| ENST00000650281.1:c.683+317G>A | ENSP00000497000.1:n.683+317G>A | |
| ENST00000328354.10:c.683+317G>A | ENSP00000329178.6:n.683+317G>A | |
| ENST00000348295.7:c.683+317G>A | ENSP00000329012.5:n.683+317G>A | |
| ENST00000382580.6:c.812+317G>A | ENSP00000372023.2:n.812+317G>A | |
| ENST00000402731.5:c.683+317G>A | ENSP00000384835.1:n.683+317G>A | |
| ENST00000403642.5:c.410+317G>A | ENSP00000384919.1:n.410+317G>A | |
| ENST00000404276.5:c.683+317G>A | ENSP00000385747.1:n.683+317G>A | |
| ENST00000405598.5:c.683+317G>A | ENSP00000386087.1:n.683+317G>A | |
| ENST00000416671.5:c.*173+317G>A | ENSP00000402225.1:n.*173+317G>A | |
| ENST00000417588.5:c.592+5899G>A | ENSP00000412901.1:n.592+5899G>A | |
| ENST00000425190.6:c.20+317G>A | ENSP00000390244.1:n.20+317G>A | |
| ENST00000433028.6:c.*408+317G>A | ENSP00000403659.1:n.*408+317G>A | |
| ENST00000433728.5:c.683+317G>A | ENSP00000404400.1:n.683+317G>A | |
| ENST00000439200.5:c.776+317G>A | ENSP00000408065.1:n.776+317G>A | |
| ENST00000439346.5:c.154+5899G>A | ENSP00000396903.1:n.154+5899G>A | |
| ENST00000447421.5:c.482+5808G>A | ENSP00000397478.2:n.482+5808G>A | |
| ENST00000448511.5:c.573+317G>A | ENSP00000404567.1:n.573+317G>A | |
| NM_001005735.1:c.812+317G>A | NP_001005735.1:n.812+317G>A | |
| NM_001257387.1:c.20+317G>A | NP_001244316.1:n.20+317G>A | |
| NM_007194.3:c.683+317G>A | NP_009125.1:n.683+317G>A | |
| NM_145862.2:c.683+317G>A | NP_665861.1:n.683+317G>A | |
| XM_011529839.1:c.842+317G>A | XP_011528141.1:n.842+317G>A | |
| XM_011529840.1:c.842+317G>A | XP_011528142.1:n.842+317G>A | |
| XM_011529841.1:c.611+5808G>A | XP_011528143.1:n.611+5808G>A | |
| XM_011529842.1:c.512+5808G>A | XP_011528144.1:n.512+5808G>A | |
| XM_011529843.1:c.482+5808G>A | XP_011528145.1:n.482+5808G>A | |
| XM_011529844.1:c.842+317G>A | XP_011528146.1:n.842+317G>A | |
| XM_011529845.1:c.20+317G>A | XP_011528147.1:n.20+317G>A | |
| XR_937805.1:n.904+317G>A | ||
| XR_937806.1:n.899+317G>A | ||
| XR_937807.1:n.899+317G>A | ||
| NM_001349956.1:c.482+5808G>A | NP_001336885.1:n.482+5808G>A | |
| NM_007194.4:c.683+317G>A MANE Select | NP_009125.1:n.683+317G>A | |
| XM_011529839.2:c.842+317G>A | XP_011528141.1:n.842+317G>A | |
| XM_011529840.3:c.842+317G>A | XP_011528142.1:n.842+317G>A | |
| XM_011529842.2:c.512+5808G>A | XP_011528144.1:n.512+5808G>A | |
| XM_011529844.2:c.842+317G>A | XP_011528146.1:n.842+317G>A | |
| XM_011529845.2:c.20+317G>A | XP_011528147.1:n.20+317G>A | |
| XM_017028560.1:c.806+317G>A | XP_016884049.1:n.806+317G>A | |
| XM_017028561.2:c.20+317G>A | XP_016884050.1:n.20+317G>A | |
| XM_024452148.1:c.713+317G>A | XP_024307916.1:n.713+317G>A | |
| XM_024452149.1:c.713+317G>A | XP_024307917.1:n.713+317G>A | |
| XR_937805.2:n.915+317G>A | ||
| XR_937806.2:n.915+317G>A | ||
| XR_937807.2:n.915+317G>A | ||
| NM_001005735.2:c.812+317G>A | NP_001005735.1:n.812+317G>A | |
| NM_001257387.2:c.20+317G>A | NP_001244316.1:n.20+317G>A | |
| NM_001349956.2:c.482+5808G>A | NP_001336885.1:n.482+5808G>A |