Linked Data
gnomAD v4:
19-47881943-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47881943A>G , CM000681.2:g.47881943A>G | GRCh38 |
| NC_000019.9:g.48385200A>G , CM000681.1:g.48385200A>G | GRCh37 |
| NC_000019.8:g.53077012A>G | NCBI36 |
| NG_016745.1:g.9455T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222002.4:c.472+141T>C MANE Select | ENSP00000222002.2:n.472+141T>C | |
| ENST00000222002.3:c.472+141T>C | ENSP00000222002.2:n.472+141T>C | |
| NM_003167.3:c.472+141T>C | NP_003158.2:n.472+141T>C | |
| NM_003167.4:c.472+141T>C MANE Select | NP_003158.2:n.472+141T>C |