Linked Data
gnomAD v4:
2-182838717-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.182838717T>G , CM000664.2:g.182838717T>G | GRCh38 |
| NC_000002.11:g.183703445T>G , CM000664.1:g.183703445T>G | GRCh37 |
| NC_000002.10:g.183411690T>G | NCBI36 |
| NG_017197.1:g.33054A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295113.5:c.593-104A>C MANE Select | ENSP00000295113.4:n.593-104A>C | |
| ENST00000295113.4:c.593-104A>C | ENSP00000295113.4:n.593-104A>C | |
| NM_001463.3:c.593-104A>C | NP_001454.2:n.593-104A>C | |
| NM_001463.4:c.593-104A>C MANE Select | NP_001454.2:n.593-104A>C |