Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101348657G>T , CM000685.2:g.101348657G>T | GRCh38 |
| NC_000023.10:g.100603645G>T , CM000685.1:g.100603645G>T | GRCh37 |
| NC_000023.9:g.100490301G>T | NCBI36 |
| NG_009616.1:g.42568C>A , LRG_128:g.42568C>A | |
| NG_011734.1:g.5313C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372902.4:c.8C>A MANE Select | ENSP00000361993.3:p.Ser3Tyr | |
| ENST00000644112.2:c.8C>A | ENSP00000494385.1:p.Ser3Tyr | |
| ENST00000645279.1:c.8C>A | ENSP00000494239.1:p.Ser3Tyr | |
| ENST00000372902.3:c.8C>A | ENSP00000361993.3:p.Ser3Tyr | |
| ENST00000480575.1:n.93C>A | ||
| NM_001145951.1:c.8C>A | NP_001139423.1:p.Ser3Tyr | |
| NM_004085.3:c.8C>A | NP_004076.1:p.Ser3Tyr | |
| NM_004085.4:c.8C>A MANE Select | NP_004076.1:p.Ser3Tyr | |
| NM_001145951.2:c.8C>A | NP_001139423.1:p.Ser3Tyr |