Linked Data
gnomAD v4:
2-219060543-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219060543C>A , CM000664.2:g.219060543C>A | GRCh38 |
| NC_000002.11:g.219925265C>A , CM000664.1:g.219925265C>A | GRCh37 |
| NC_000002.10:g.219633509C>A | NCBI36 |
| NG_016741.1:g.4974G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295731.7:c.-76G>T MANE Select | ENSP00000295731.5:n.-76G>T | |
| NM_002181.4:c.-76G>T MANE Select | NP_002172.2:n.-76G>T |