Linked Data
ClinVar Variation Id:
2143533
ClinVar RCV Id:
RCV003062733
dbSNP Id:
rs749849069
ExAC:
6:10404820 C / T
gnomAD v2:
6-10404820-C-T
gnomAD v3:
6-10404587-C-T
gnomAD v4:
6-10404587-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10404587C>T , CM000668.2:g.10404587C>T | GRCh38 |
| NC_000006.11:g.10404820C>T , CM000668.1:g.10404820C>T | GRCh37 |
| NC_000006.10:g.10512806C>T | NCBI36 |
| NG_016151.1:g.19978G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379608.9:c.667G>A (TFAP2A) | ENSP00000368928.3:p.Val223Ile | |
| ENST00000379613.10:c.691G>A (TFAP2A) MANE Select | ENSP00000368933.5:p.Val231Ile | |
| ENST00000482890.6:c.691G>A (TFAP2A) | ENSP00000418541.2:p.Val231Ile | |
| ENST00000488193.7:c.*182G>A (TFAP2A) | ENSP00000419823.3:n.*182G>A | |
| ENST00000498450.3:c.256G>A (TFAP2A) | ENSP00000419961.3:p.Val86Ile | |
| ENST00000319516.8:c.673G>A (TFAP2A) | ENSP00000316516.4:p.Val225Ile | |
| ENST00000379608.7:c.667G>A (TFAP2A) | ENSP00000368928.3:p.Val223Ile | |
| ENST00000379613.7:c.691G>A (TFAP2A) | ENSP00000368933.3:p.Val231Ile | |
| ENST00000461628.5:c.8G>A (TFAP2A) | ||
| ENST00000466073.5:c.685G>A (TFAP2A) | ENSP00000417495.1:p.Val229Ile | |
| ENST00000475264.5:c.399G>A (TFAP2A) | ||
| ENST00000478375.5:n.685G>A (TFAP2A) | ||
| ENST00000482890.5:c.685G>A (TFAP2A) | ENSP00000418541.1:p.Val229Ile | |
| ENST00000488193.5:c.*182G>A (TFAP2A) | ENSP00000419823.1:n.*182G>A | |
| ENST00000489805.5:c.*182G>A (TFAP2A) | ENSP00000420568.1:n.*182G>A | |
| ENST00000497266.5:n.656G>A (TFAP2A) | ||
| ENST00000498450.1:c.256G>A (TFAP2A) | ENSP00000419961.1:p.Val86Ile | |
| NM_001032280.2:c.667G>A (TFAP2A) | NP_001027451.1:p.Val223Ile | |
| NM_001042425.1:c.673G>A (TFAP2A) | NP_001035890.1:p.Val225Ile | |
| NM_003220.2:c.685G>A (TFAP2A) | NP_003211.1:p.Val229Ile | |
| XM_006715175.2:c.820G>A (TFAP2A) | XP_006715238.1:p.Val274Ile | |
| XM_011514833.1:c.535G>A (TFAP2A) | XP_011513135.1:p.Val179Ile | |
| NR_145448.1:n.86C>T (TFAP2A-AS2) | ||
| XM_011514833.2:c.535G>A (TFAP2A) | XP_011513135.1:p.Val179Ile | |
| XM_017011232.1:c.931G>A (TFAP2A) | XP_016866721.1:p.Val311Ile | |
| NM_003220.3:c.685G>A (TFAP2A) | NP_003211.1:p.Val229Ile | |
| NM_001032280.3:c.667G>A (TFAP2A) | NP_001027451.1:p.Val223Ile | |
| NM_001042425.2:c.673G>A (TFAP2A) | NP_001035890.1:p.Val225Ile | |
| NM_001372066.1:c.691G>A (TFAP2A) MANE Select | NP_001358995.1:p.Val231Ile | |
| NM_001042425.3:c.673G>A (TFAP2A) | NP_001035890.1:p.Val225Ile |