Linked Data
gnomAD v4:
2-219060570-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219060570G>C , CM000664.2:g.219060570G>C | GRCh38 |
| NC_000002.11:g.219925292G>C , CM000664.1:g.219925292G>C | GRCh37 |
| NC_000002.10:g.219633536G>C | NCBI36 |
| NG_016741.1:g.4947C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295731.7:c.-103C>G MANE Select | ENSP00000295731.5:n.-103C>G | |
| NM_002181.4:c.-103C>G MANE Select | NP_002172.2:n.-103C>G |