Linked Data
ClinVar Variation Id:
2799131
ClinVar RCV Id:
RCV003668346
gnomAD v4:
6-10404600-G-C
MyVariant Identifiers:
chr6:g.10404833G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10404600G>C , CM000668.2:g.10404600G>C | GRCh38 |
| NC_000006.11:g.10404833G>C , CM000668.1:g.10404833G>C | GRCh37 |
| NC_000006.10:g.10512819G>C | NCBI36 |
| NG_016151.1:g.19965C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379608.9:c.654C>G (TFAP2A) | ENSP00000368928.3:p.Thr218= | |
| ENST00000379613.10:c.678C>G (TFAP2A) MANE Select | ENSP00000368933.5:p.Thr226= | |
| ENST00000482890.6:c.678C>G (TFAP2A) | ENSP00000418541.2:p.Thr226= | |
| ENST00000488193.7:c.*169C>G (TFAP2A) | ENSP00000419823.3:n.*169C>G | |
| ENST00000498450.3:c.243C>G (TFAP2A) | ENSP00000419961.3:p.Thr81= | |
| ENST00000319516.8:c.660C>G (TFAP2A) | ENSP00000316516.4:p.Thr220= | |
| ENST00000379608.7:c.654C>G (TFAP2A) | ENSP00000368928.3:p.Thr218= | |
| ENST00000379613.7:c.678C>G (TFAP2A) | ENSP00000368933.3:p.Thr226= | |
| ENST00000466073.5:c.672C>G (TFAP2A) | ENSP00000417495.1:p.Thr224= | |
| ENST00000475264.5:c.386C>G (TFAP2A) | ||
| ENST00000478375.5:n.672C>G (TFAP2A) | ||
| ENST00000482890.5:c.672C>G (TFAP2A) | ENSP00000418541.1:p.Thr224= | |
| ENST00000488193.5:c.*169C>G (TFAP2A) | ENSP00000419823.1:n.*169C>G | |
| ENST00000489805.5:c.*169C>G (TFAP2A) | ENSP00000420568.1:n.*169C>G | |
| ENST00000497266.5:n.643C>G (TFAP2A) | ||
| ENST00000498450.1:c.243C>G (TFAP2A) | ENSP00000419961.1:p.Thr81= | |
| NM_001032280.2:c.654C>G (TFAP2A) | NP_001027451.1:p.Thr218= | |
| NM_001042425.1:c.660C>G (TFAP2A) | NP_001035890.1:p.Thr220= | |
| NM_003220.2:c.672C>G (TFAP2A) | NP_003211.1:p.Thr224= | |
| XM_006715175.2:c.807C>G (TFAP2A) | XP_006715238.1:p.Thr269= | |
| XM_011514833.1:c.522C>G (TFAP2A) | XP_011513135.1:p.Thr174= | |
| NR_145448.1:n.99G>C (TFAP2A-AS2) | ||
| XM_011514833.2:c.522C>G (TFAP2A) | XP_011513135.1:p.Thr174= | |
| XM_017011232.1:c.918C>G (TFAP2A) | XP_016866721.1:p.Thr306= | |
| NM_003220.3:c.672C>G (TFAP2A) | NP_003211.1:p.Thr224= | |
| NM_001032280.3:c.654C>G (TFAP2A) | NP_001027451.1:p.Thr218= | |
| NM_001042425.2:c.660C>G (TFAP2A) | NP_001035890.1:p.Thr220= | |
| NM_001372066.1:c.678C>G (TFAP2A) MANE Select | NP_001358995.1:p.Thr226= | |
| NM_001042425.3:c.660C>G (TFAP2A) | NP_001035890.1:p.Thr220= |