Linked Data
ClinVar Variation Id:
518715
dbSNP Id:
rs781731042
ExAC:
22:19753951 G / A
gnomAD v2:
22-19753951-G-A
gnomAD v3:
22-19766428-G-A
gnomAD v4:
22-19766428-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19766428G>A , CM000684.2:g.19766428G>A | GRCh38 |
| NC_000022.10:g.19753951G>A , CM000684.1:g.19753951G>A | GRCh37 |
| NC_000022.9:g.18133951G>A | NCBI36 |
| NG_009229.1:g.14726G>A , LRG_226:g.14726G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649276.2:c.1076G>A MANE Select | ENSP00000497003.1:p.Gly359Asp | |
| ENST00000329705.11:c.1009+426G>A | ENSP00000331176.7:n.1009+426G>A | |
| ENST00000332710.8:c.1049G>A | ENSP00000331791.4:p.Gly350Asp | |
| ENST00000359500.7:c.1009+426G>A | ENSP00000352483.3:n.1009+426G>A | |
| ENST00000621939.1:c.1009+426G>A | ENSP00000477982.1:n.1009+426G>A | |
| NM_005992.1:c.1009+426G>A | NP_005983.1:n.1009+426G>A | |
| NM_080646.1:c.1009+426G>A | NP_542377.1:n.1009+426G>A | |
| NM_080647.1:c.1049G>A , LRG_226t1:c.1049G>A | NP_542378.1:p.Gly350Asp | |
| XM_006724312.1:c.1049G>A | XP_006724375.1:p.Gly350Asp | |
| XM_011530351.1:c.1076G>A | XP_011528653.1:p.Gly359Asp | |
| XM_006724312.2:c.1049G>A | XP_006724375.1:p.Gly350Asp | |
| XM_017028925.1:c.1199G>A | XP_016884414.1:p.Gly400Asp | |
| XM_017028926.1:c.1049G>A | XP_016884415.1:p.Gly350Asp | |
| XM_017028927.1:c.404G>A | XP_016884416.1:p.Gly135Asp | |
| XM_017028928.1:c.1159+426G>A | XP_016884417.1:n.1159+426G>A | |
| NM_001379200.1:c.1076G>A MANE Select | NP_001366129.1:p.Gly359Asp | |
| NM_080646.2:c.1009+426G>A | NP_542377.1:n.1009+426G>A |