Linked Data
ClinVar Variation Id:
2631143
ClinVar RCV Id:
RCV003404440
dbSNP Id:
rs745770513
COSMIC:
COSM96458
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3727942G>T , CM000678.2:g.3727942G>T | GRCh38 |
| NC_000016.9:g.3777943G>T , CM000678.1:g.3777943G>T | GRCh37 |
| NC_000016.8:g.3717944G>T | NCBI36 |
| NG_009873.1:g.157179C>A | |
| NG_009873.2:g.157772C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.7105C>A MANE Select | ENSP00000262367.5:p.Pro2369Thr | |
| ENST00000262367.9:c.7105C>A | ENSP00000262367.5:p.Pro2369Thr | |
| ENST00000382070.7:c.6991C>A | ENSP00000371502.3:p.Pro2331Thr | |
| NM_001079846.1:c.6991C>A | NP_001073315.1:p.Pro2331Thr | |
| NM_004380.2:c.7105C>A | NP_004371.2:p.Pro2369Thr | |
| XM_005255124.3:c.7060C>A | XP_005255181.1:p.Pro2354Thr | |
| XM_005255125.3:c.6688C>A | XP_005255182.1:p.Pro2230Thr | |
| XM_006720848.2:c.6844C>A | XP_006720911.1:p.Pro2282Thr | |
| XM_011522380.1:c.7051C>A | XP_011520682.1:p.Pro2351Thr | |
| XM_011522381.1:c.6352C>A | XP_011520683.1:p.Pro2118Thr | |
| XM_005255124.4:c.7060C>A | XP_005255181.1:p.Pro2354Thr | |
| XM_005255125.4:c.6688C>A | XP_005255182.1:p.Pro2230Thr | |
| XM_006720848.3:c.6844C>A | XP_006720911.1:p.Pro2282Thr | |
| XM_011522381.2:c.6352C>A | XP_011520683.1:p.Pro2118Thr | |
| XM_017022944.1:c.7099C>A | XP_016878433.1:p.Pro2367Thr | |
| NM_004380.3:c.7105C>A MANE Select | NP_004371.2:p.Pro2369Thr |