Linked Data
gnomAD v4:
2-29717498-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29717498A>C , CM000664.2:g.29717498A>C | GRCh38 |
| NC_000002.11:g.29940364A>C , CM000664.1:g.29940364A>C | GRCh37 |
| NC_000002.10:g.29793868A>C | NCBI36 |
| NG_009445.1:g.209069T>G , LRG_488:g.209069T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.787+80T>G MANE Select | ENSP00000373700.3:n.787+80T>G | |
| ENST00000389048.7:c.787+80T>G | ENSP00000373700.3:n.787+80T>G | |
| ENST00000618119.4:c.-345+80T>G | ENSP00000482733.1:n.-345+80T>G | |
| NM_004304.4:c.787+80T>G | NP_004295.2:n.787+80T>G | |
| XR_001738688.2:n.1717+80T>G | ||
| NM_004304.5:c.787+80T>G MANE Select | NP_004295.2:n.787+80T>G |