Linked Data
ClinVar Variation Id:
3054766
ClinVar RCV Id:
RCV003969656
gnomAD v4:
14-74480741-T-C
MyVariant Identifiers:
chr14:g.74947444T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74480741T>C , CM000676.2:g.74480741T>C | GRCh38 |
| NC_000014.8:g.74947444T>C , CM000676.1:g.74947444T>C | GRCh37 |
| NC_000014.7:g.74017197T>C | NCBI36 |
| NG_007117.1:g.17641A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555619.6:c.402A>G MANE Select | ENSP00000451112.2:p.Lys134= | |
| ENST00000238633.6:c.402A>G | ENSP00000238633.2:p.Lys134= | |
| ENST00000434013.6:c.402A>G | ENSP00000412103.2:p.Lys134= | |
| ENST00000541064.5:c.364-453A>G | ENSP00000442488.1:n.364-453A>G | |
| ENST00000553490.5:c.402A>G | ENSP00000451180.1:p.Lys134= | |
| ENST00000554482.1:c.197A>G | ENSP00000451314.1:n.197A>G | |
| ENST00000555619.5:c.402A>G | ENSP00000451112.1:p.Lys134= | |
| ENST00000556009.5:c.467A>G | ||
| ENST00000557510.5:c.402A>G | ENSP00000451206.1:p.Lys134= | |
| NM_006432.3:c.402A>G | NP_006423.1:p.Lys134= | |
| NM_001363688.1:c.402A>G | NP_001350617.1:p.Lys134= | |
| NM_006432.4:c.402A>G | NP_006423.1:p.Lys134= | |
| NM_001375440.1:c.364-453A>G | NP_001362369.1:n.364-453A>G | |
| NM_006432.5:c.402A>G MANE Select | NP_006423.1:p.Lys134= |