Linked Data
gnomAD v4:
19-47881938-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47881938G>C , CM000681.2:g.47881938G>C | GRCh38 |
| NC_000019.9:g.48385195G>C , CM000681.1:g.48385195G>C | GRCh37 |
| NC_000019.8:g.53077007G>C | NCBI36 |
| NG_016745.1:g.9460C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222002.4:c.472+146C>G MANE Select | ENSP00000222002.2:n.472+146C>G | |
| ENST00000222002.3:c.472+146C>G | ENSP00000222002.2:n.472+146C>G | |
| NM_003167.3:c.472+146C>G | NP_003158.2:n.472+146C>G | |
| NM_003167.4:c.472+146C>G MANE Select | NP_003158.2:n.472+146C>G |