Linked Data
ClinVar Variation Id:
1713362
ClinVar RCV Id:
RCV002295403
dbSNP Id:
rs1225528201
gnomAD v4:
16-3727941-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3727941G>A , CM000678.2:g.3727941G>A | GRCh38 |
| NC_000016.9:g.3777942G>A , CM000678.1:g.3777942G>A | GRCh37 |
| NC_000016.8:g.3717943G>A | NCBI36 |
| NG_009873.1:g.157180C>T | |
| NG_009873.2:g.157773C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.7106C>T MANE Select | ENSP00000262367.5:p.Pro2369Leu | |
| ENST00000262367.9:c.7106C>T | ENSP00000262367.5:p.Pro2369Leu | |
| ENST00000382070.7:c.6992C>T | ENSP00000371502.3:p.Pro2331Leu | |
| NM_001079846.1:c.6992C>T | NP_001073315.1:p.Pro2331Leu | |
| NM_004380.2:c.7106C>T | NP_004371.2:p.Pro2369Leu | |
| XM_005255124.3:c.7061C>T | XP_005255181.1:p.Pro2354Leu | |
| XM_005255125.3:c.6689C>T | XP_005255182.1:p.Pro2230Leu | |
| XM_006720848.2:c.6845C>T | XP_006720911.1:p.Pro2282Leu | |
| XM_011522380.1:c.7052C>T | XP_011520682.1:p.Pro2351Leu | |
| XM_011522381.1:c.6353C>T | XP_011520683.1:p.Pro2118Leu | |
| XM_005255124.4:c.7061C>T | XP_005255181.1:p.Pro2354Leu | |
| XM_005255125.4:c.6689C>T | XP_005255182.1:p.Pro2230Leu | |
| XM_006720848.3:c.6845C>T | XP_006720911.1:p.Pro2282Leu | |
| XM_011522381.2:c.6353C>T | XP_011520683.1:p.Pro2118Leu | |
| XM_017022944.1:c.7100C>T | XP_016878433.1:p.Pro2367Leu | |
| NM_004380.3:c.7106C>T MANE Select | NP_004371.2:p.Pro2369Leu |