Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.95324472C>A , CM000669.2:g.95324472C>A | GRCh38 |
| NC_000007.13:g.94953784C>A , CM000669.1:g.94953784C>A | GRCh37 |
| NC_000007.12:g.94791720C>A | NCBI36 |
| NG_008779.1:g.5101G>T | |
| NG_008779.2:g.5235G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222381.8:c.4G>T MANE Select | ENSP00000222381.3:p.Ala2Ser | |
| ENST00000222381.7:c.4G>T | ENSP00000222381.3:p.Ala2Ser | |
| ENST00000433729.1:c.4G>T | ENSP00000407359.1:p.Ala2Ser | |
| NM_000446.5:c.4G>T | NP_000437.3:p.Ala2Ser | |
| NM_000446.6:c.4G>T | NP_000437.3:p.Ala2Ser | |
| NM_000446.7:c.4G>T MANE Select | NP_000437.3:p.Ala2Ser |