Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78123370G>C , CM000685.2:g.78123370G>C | GRCh38 |
| NC_000023.10:g.77378867G>C , CM000685.1:g.77378867G>C | GRCh37 |
| NC_000023.9:g.77265523G>C | NCBI36 |
| NG_008862.1:g.24202G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373316.5:c.932G>C MANE Select | ENSP00000362413.4:p.Trp311Ser | |
| ENST00000644362.1:c.848G>C | ENSP00000496140.1:p.Trp283Ser | |
| ENST00000373316.4:c.932G>C | ENSP00000362413.4:p.Trp311Ser | |
| NM_000291.3:c.932G>C | NP_000282.1:p.Trp311Ser | |
| NM_000291.4:c.932G>C MANE Select | NP_000282.1:p.Trp311Ser |