Linked Data
ClinVar Variation Id:
9923
ClinVar RCV Id:
RCV000010601
dbSNP Id:
rs137852546
gnomAD v3:
X-72582562-C-A
gnomAD v4:
X-72582562-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.72582562C>A , CM000685.2:g.72582562C>A | GRCh38 |
| NC_000023.10:g.71802412C>A , CM000685.1:g.71802412C>A | GRCh37 |
| NC_000023.9:g.71719137C>A | NCBI36 |
| NG_016599.1:g.136618G>T | |
| NG_016599.2:g.136620G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373542.9:c.3334G>T MANE Select | ENSP00000362643.4:p.Glu1112Ter | |
| ENST00000339490.7:c.3295G>T | ENSP00000342469.3:p.Glu1099Ter | |
| ENST00000373539.3:c.3385G>T | ENSP00000362640.3:p.Glu1129Ter | |
| ENST00000373542.8:c.3334G>T | ENSP00000362643.4:p.Glu1112Ter | |
| ENST00000373545.7:c.3208G>T | ENSP00000362646.3:p.Glu1070Ter | |
| ENST00000541944.5:c.3118G>T | ENSP00000441251.1:p.Glu1040Ter | |
| NM_001122670.1:c.3295G>T | NP_001116142.1:p.Glu1099Ter | |
| NM_001172436.1:c.3118G>T | NP_001165907.1:p.Glu1040Ter | |
| NM_002637.3:c.3334G>T | NP_002628.2:p.Glu1112Ter | |
| XM_006724661.2:c.3157G>T | XP_006724724.1:p.Glu1053Ter | |
| XR_001755696.1:n.4264G>T | ||
| NM_002637.4:c.3334G>T MANE Select | NP_002628.2:p.Glu1112Ter | |
| NM_001122670.2:c.3295G>T | NP_001116142.1:p.Glu1099Ter | |
| NM_001172436.2:c.3118G>T | NP_001165907.1:p.Glu1040Ter |