Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134408155T>C , CM000671.2:g.134408155T>C | GRCh38 |
| NC_000009.11:g.137300001T>C , CM000671.1:g.137300001T>C | GRCh37 |
| NC_000009.10:g.136439822T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481739.2:c.286T>C MANE Select | ENSP00000419692.1:p.Ser96Pro | |
| ENST00000672570.1:c.205T>C | ENSP00000500402.1:p.Ser69Pro | |
| ENST00000356384.4:n.696T>C | ||
| ENST00000481739.1:c.286T>C | ENSP00000419692.1:p.Ser96Pro | |
| NM_001291920.1:c.205T>C | NP_001278849.1:p.Ser69Pro | |
| NM_001291921.1:c.-6T>C | NP_001278850.1:n.-6T>C | |
| NM_002957.5:c.286T>C | NP_002948.1:p.Ser96Pro | |
| NM_002957.6:c.286T>C MANE Select | NP_002948.1:p.Ser96Pro | |
| NM_001291921.2:c.-6T>C | NP_001278850.1:n.-6T>C | |
| NM_001291920.2:c.205T>C | NP_001278849.1:p.Ser69Pro |