Linked Data
gnomAD v4:
2-182838548-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.182838548T>C , CM000664.2:g.182838548T>C | GRCh38 |
| NC_000002.11:g.183703276T>C , CM000664.1:g.183703276T>C | GRCh37 |
| NC_000002.10:g.183411521T>C | NCBI36 |
| NG_017197.1:g.33223A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295113.5:c.658A>G MANE Select | ENSP00000295113.4:p.Lys220Glu | |
| ENST00000295113.4:c.658A>G | ENSP00000295113.4:p.Lys220Glu | |
| NM_001463.3:c.658A>G | NP_001454.2:p.Lys220Glu | |
| NM_001463.4:c.658A>G MANE Select | NP_001454.2:p.Lys220Glu |