Linked Data
ClinVar Variation Id:
730676
ClinVar RCV Id:
RCV000905509
dbSNP Id:
rs115587641
ExAC:
4:7774685 C / T
gnomAD v2:
4-7774685-C-T
gnomAD v3:
4-7772958-C-T
gnomAD v4:
4-7772958-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.7772958C>T , CM000666.2:g.7772958C>T | GRCh38 |
| NC_000004.11:g.7774685C>T , CM000666.1:g.7774685C>T | GRCh37 |
| NC_000004.10:g.7825585C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360265.9:c.1863G>A (AFAP1) | ENSP00000353402.4:p.Glu621= | |
| ENST00000382543.4:c.2115G>A (AFAP1) | ENSP00000371983.3:p.Glu705= | |
| ENST00000420658.6:c.2115G>A (AFAP1) MANE Select | ENSP00000410689.1:p.Glu705= | |
| ENST00000358461.6:c.1863G>A (AFAP1) | ENSP00000351245.2:p.Glu621= | |
| ENST00000360265.8:c.1863G>A (AFAP1) | ENSP00000353402.4:p.Glu621= | |
| ENST00000382543.3:c.2115G>A (AFAP1) | ENSP00000371983.3:p.Glu705= | |
| ENST00000420658.5:c.2115G>A (AFAP1) | ENSP00000410689.1:p.Glu705= | |
| ENST00000505447.5:n.644G>A (AFAP1) | ||
| ENST00000513842.1:n.1110G>A (AFAP1) | ||
| NM_001134647.1:c.2115G>A (AFAP1) | NP_001128119.1:p.Glu705= | |
| NM_198595.2:c.1863G>A (AFAP1) | NP_940997.1:p.Glu621= | |
| NR_026892.1:n.825C>T (AFAP1-AS1) | ||
| XM_006713908.2:c.2178G>A (AFAP1) | XP_006713971.1:p.Glu726= | |
| XM_006713909.2:c.1926G>A (AFAP1) | XP_006713972.1:p.Glu642= | |
| XM_011513544.1:c.2115G>A (AFAP1) | XP_011511846.1:p.Glu705= | |
| XM_011513545.1:c.1980G>A (AFAP1) | XP_011511847.1:p.Glu660= | |
| XM_006713909.3:c.1926G>A (AFAP1) | XP_006713972.1:p.Glu642= | |
| XM_011513544.3:c.2115G>A (AFAP1) | XP_011511846.1:p.Glu705= | |
| XM_017008535.1:c.1917G>A (AFAP1) | XP_016864024.1:p.Glu639= | |
| NM_001371090.1:c.1863G>A (AFAP1) | NP_001358019.1:p.Glu621= | |
| NM_001371091.1:c.1863G>A (AFAP1) | NP_001358020.1:p.Glu621= | |
| NM_001134647.2:c.2115G>A (AFAP1) MANE Select | NP_001128119.1:p.Glu705= | |
| NM_198595.3:c.1863G>A (AFAP1) | NP_940997.1:p.Glu621= |