Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71994503T>G , CM000674.2:g.71994503T>G | GRCh38 |
| NC_000012.11:g.72388283T>G , CM000674.1:g.72388283T>G | GRCh37 |
| NC_000012.10:g.70674550T>G | NCBI36 |
| NG_008279.1:g.60658T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333850.4:c.1006T>G MANE Select | ENSP00000329093.3:p.Ser336Ala | |
| ENST00000333850.3:c.1006T>G | ENSP00000329093.3:p.Ser336Ala | |
| NM_173353.3:c.1006T>G | NP_775489.2:p.Ser336Ala | |
| XM_011537899.1:c.412T>G | XP_011536201.1:p.Ser138Ala | |
| NM_173353.4:c.1006T>G MANE Select | NP_775489.2:p.Ser336Ala |