Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10622772A>C , CM000670.2:g.10622772A>C | GRCh38 |
| NC_000008.10:g.10480282A>C , CM000670.1:g.10480282A>C | GRCh37 |
| NC_000008.9:g.10517692A>C | NCBI36 |
| NG_028035.1:g.37336T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.430T>G MANE Select | ENSP00000371923.3:p.Ser144Ala | |
| ENST00000329335.3:n.680T>G | ||
| ENST00000382483.3:c.430T>G | ENSP00000371923.3:p.Ser144Ala | |
| NM_178857.5:c.430T>G | NP_849188.4:p.Ser144Ala | |
| NM_178857.6:c.430T>G MANE Select | NP_849188.4:p.Ser144Ala |