Linked Data
gnomAD v4:
2-182838713-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.182838713C>G , CM000664.2:g.182838713C>G | GRCh38 |
| NC_000002.11:g.183703441C>G , CM000664.1:g.183703441C>G | GRCh37 |
| NC_000002.10:g.183411686C>G | NCBI36 |
| NG_017197.1:g.33058G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295113.5:c.593-100G>C MANE Select | ENSP00000295113.4:n.593-100G>C | |
| ENST00000295113.4:c.593-100G>C | ENSP00000295113.4:n.593-100G>C | |
| NM_001463.3:c.593-100G>C | NP_001454.2:n.593-100G>C | |
| NM_001463.4:c.593-100G>C MANE Select | NP_001454.2:n.593-100G>C |