Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23417098A>C , CM000678.2:g.23417098A>C | GRCh38 |
| NC_000016.9:g.23428419A>C , CM000678.1:g.23428419A>C | GRCh37 |
| NC_000016.8:g.23335920A>C | NCBI36 |
| NG_021287.1:g.41094T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307149.10:c.1161T>G MANE Select | ENSP00000305442.5:p.Cys387Trp | |
| ENST00000307149.9:c.1161T>G | ENSP00000305442.5:p.Cys387Trp | |
| ENST00000567821.1:n.196T>G | ||
| NM_153603.3:c.1161T>G | NP_705831.1:p.Cys387Trp | |
| XR_429680.1:n.1377T>G | ||
| XM_017023870.1:c.966T>G | XP_016879359.1:p.Cys322Trp | |
| XR_002957852.1:n.1382T>G | ||
| XR_429680.2:n.1382T>G | ||
| NM_153603.4:c.1161T>G MANE Select | NP_705831.1:p.Cys387Trp |