Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118168736C>G , CM000673.2:g.118168736C>G | GRCh38 |
| NC_000011.9:g.118039451C>G , CM000673.1:g.118039451C>G | GRCh37 |
| NC_000011.8:g.117544661C>G | NCBI36 |
| NG_042217.1:g.12887G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278947.6:c.86G>C MANE Select | ENSP00000278947.5:p.Ser29Thr | |
| ENST00000658882.1:c.190G>C | ENSP00000499572.1:p.Ala64Pro | |
| ENST00000665446.1:n.322G>C | ||
| ENST00000669850.1:n.328G>C | ||
| ENST00000278947.5:c.86G>C | ENSP00000278947.5:p.Ser29Thr | |
| NM_004588.4:c.86G>C | NP_004579.1:p.Ser29Thr | |
| NM_004588.5:c.86G>C MANE Select | NP_004579.1:p.Ser29Thr |