Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189045831G>C , CM000664.2:g.189045831G>C | GRCh38 |
| NC_000002.11:g.189910557G>C , CM000664.1:g.189910557G>C | GRCh37 |
| NC_000002.10:g.189618802G>C | NCBI36 |
| NG_011799.1:g.139049C>G | |
| NG_011799.2:g.139049C>G | |
| NG_011799.3:g.184471C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.3278C>G MANE Select | ENSP00000364000.3:p.Ala1093Gly | |
| ENST00000374866.7:c.3278C>G | ENSP00000364000.3:p.Ala1093Gly | |
| ENST00000618828.1:c.2117C>G | ENSP00000482184.1:p.Ala706Gly | |
| NM_000393.3:c.3278C>G | NP_000384.2:p.Ala1093Gly | |
| XM_011510573.1:c.3140C>G | XP_011508875.1:p.Ala1047Gly | |
| NM_000393.4:c.3278C>G | NP_000384.2:p.Ala1093Gly | |
| XM_011510573.3:c.3140C>G | XP_011508875.1:p.Ala1047Gly | |
| NM_000393.5:c.3278C>G MANE Select | NP_000384.2:p.Ala1093Gly |