Linked Data
ClinVar Variation Id:
204795
dbSNP Id:
rs796052247
gnomAD v2:
22-40760306-G-C
gnomAD v3:
22-40364302-G-C
gnomAD v4:
22-40364302-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.40364302G>C , CM000684.2:g.40364302G>C | GRCh38 |
| NC_000022.10:g.40760306G>C , CM000684.1:g.40760306G>C | GRCh37 |
| NC_000022.9:g.39090252G>C | NCBI36 |
| NG_007993.1:g.22803G>C | |
| NG_007993.2:g.22803G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480775.3:c.*522G>C | ENSP00000485462.2:n.*522G>C | |
| ENST00000623287.4:c.*553G>C | ENSP00000485437.1:n.*553G>C | |
| ENST00000623632.4:c.819G>C | ENSP00000485288.2:p.Glu273Asp | |
| ENST00000625194.4:c.1170G>C | ENSP00000485289.2:p.Glu390Asp | |
| ENST00000636265.1:c.1149G>C | ENSP00000490909.1:p.Glu383Asp | |
| ENST00000636433.1:n.1150G>C | ||
| ENST00000636714.1:c.1128G>C | ENSP00000490946.1:p.Glu376Asp | |
| ENST00000637666.2:c.1128G>C | ENSP00000489696.2:p.Glu376Asp | |
| ENST00000637669.1:c.1128G>C | ENSP00000489728.1:p.Glu376Asp | |
| ENST00000639722.1:c.*824G>C | ENSP00000492828.1:n.*824G>C | |
| ENST00000674592.1:n.2642G>C | ||
| ENST00000675622.1:n.4195G>C | ||
| ENST00000679609.1:c.*738G>C | ENSP00000506592.1:n.*738G>C | |
| ENST00000679656.1:n.1813G>C | ||
| ENST00000679723.1:c.1083G>C | ENSP00000505155.1:p.Glu361Asp | |
| ENST00000679845.1:n.1436G>C | ||
| ENST00000679904.1:n.1524G>C | ||
| ENST00000680378.1:c.1215G>C | ENSP00000505556.1:p.Glu405Asp | |
| ENST00000680444.1:c.*491G>C | ENSP00000505298.1:n.*491G>C | |
| ENST00000680978.1:c.1128G>C | ENSP00000505244.1:p.Glu376Asp | |
| ENST00000681003.1:n.591G>C | ||
| ENST00000681159.1:n.2532G>C | ||
| ENST00000216194.11:c.1170G>C | ENSP00000216194.8:p.Glu390Asp | |
| ENST00000342312.9:c.1128G>C | ENSP00000341429.6:p.Glu376Asp | |
| ENST00000623063.3:c.1128G>C MANE Select | ENSP00000485525.1:p.Glu376Asp | |
| ENST00000625194.3:c.757G>C | ||
| NM_000026.2:c.1128G>C | NP_000017.1:p.Glu376Asp | |
| NM_001123378.1:c.1128G>C | NP_001116850.1:p.Glu376Asp | |
| XM_011529976.1:c.1128G>C | XP_011528278.1:p.Glu376Asp | |
| XM_011529977.1:c.1128G>C | XP_011528279.1:p.Glu376Asp | |
| XM_011529978.1:c.1128G>C | XP_011528280.1:p.Glu376Asp | |
| XM_011529979.1:c.1128G>C | XP_011528281.1:p.Glu376Asp | |
| XM_011529980.1:c.1128G>C | XP_011528282.1:p.Glu376Asp | |
| XM_011529981.1:c.663G>C | XP_011528283.1:p.Glu221Asp | |
| XM_011529982.1:c.297G>C | XP_011528284.1:p.Glu99Asp | |
| XR_937824.1:n.1218G>C | ||
| XR_937825.1:n.1218G>C | ||
| NM_000026.3:c.1128G>C | NP_000017.1:p.Glu376Asp | |
| NM_001123378.2:c.1128G>C | NP_001116850.1:p.Glu376Asp | |
| NM_001317923.1:c.936G>C | NP_001304852.1:p.Glu312Asp | |
| NM_001363840.1:c.1128G>C | NP_001350769.1:p.Glu376Asp | |
| NR_134256.1:n.1218G>C | ||
| XM_011529977.3:c.1128G>C | XP_011528279.1:p.Glu376Asp | |
| XM_011529980.3:c.1128G>C | XP_011528282.1:p.Glu376Asp | |
| XM_017028636.1:c.1083G>C | XP_016884125.1:p.Glu361Asp | |
| XM_017028637.1:c.1083G>C | XP_016884126.1:p.Glu361Asp | |
| XM_017028638.1:c.663G>C | XP_016884127.1:p.Glu221Asp | |
| XM_017028639.2:c.663G>C | XP_016884128.1:p.Glu221Asp | |
| XM_017028640.1:c.297G>C | XP_016884129.1:p.Glu99Asp | |
| XM_024452166.1:c.1083G>C | XP_024307934.1:p.Glu361Asp | |
| XR_001755176.2:n.1370G>C | ||
| XR_002958670.1:n.1155G>C | ||
| XR_937825.3:n.1216G>C | ||
| NM_000026.4:c.1128G>C MANE Select | NP_000017.1:p.Glu376Asp | |
| NM_001363840.2:c.1128G>C | NP_001350769.1:p.Glu376Asp | |
| NM_001123378.3:c.1128G>C | NP_001116850.1:p.Glu376Asp | |
| NM_001317923.2:c.936G>C | NP_001304852.1:p.Glu312Asp | |
| NM_001363840.3:c.1128G>C | NP_001350769.1:p.Glu376Asp | |
| NR_134256.2:n.1218G>C |