Linked Data
gnomAD v4:
2-219060579-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219060579C>G , CM000664.2:g.219060579C>G | GRCh38 |
| NC_000002.11:g.219925301C>G , CM000664.1:g.219925301C>G | GRCh37 |
| NC_000002.10:g.219633545C>G | NCBI36 |
| NG_016741.1:g.4938G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295731.7:c.-112G>C MANE Select | ENSP00000295731.5:n.-112G>C | |
| NM_002181.4:c.-112G>C MANE Select | NP_002172.2:n.-112G>C |