Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25015616A>C , CM000685.2:g.25015616A>C | GRCh38 |
| NC_000023.10:g.25033733A>C , CM000685.1:g.25033733A>C | GRCh37 |
| NC_000023.9:g.24943654A>C | NCBI36 |
| NG_008281.1:g.5333T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.122T>G MANE Select | ENSP00000368332.4:p.Met41Arg | |
| ENST00000636609.1:n.65T>G | ||
| ENST00000637394.1:n.97T>G | ||
| ENST00000379044.4:c.122T>G | ENSP00000368332.4:p.Met41Arg | |
| NM_139058.2:c.122T>G | NP_620689.1:p.Met41Arg | |
| NM_139058.3:c.122T>G MANE Select | NP_620689.1:p.Met41Arg |