Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52028080C>T , CM000666.2:g.52028080C>T | GRCh38 |
| NC_000004.11:g.52894246C>T , CM000666.1:g.52894246C>T | GRCh37 |
| NC_000004.10:g.52589003C>T | NCBI36 |
| NG_008891.1:g.15240G>A , LRG_204:g.15240G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.641G>A MANE Select | ENSP00000370839.6:p.Ser214Asn | |
| ENST00000381431.9:c.641G>A | ENSP00000370839.5:p.Ser214Asn | |
| NM_000232.4:c.641G>A , LRG_204t1:c.641G>A | NP_000223.1:p.Ser214Asn | |
| XM_006714049.2:c.344G>A | XP_006714112.1:p.Ser115Asn | |
| XM_011534403.1:c.431G>A | XP_011532705.1:p.Ser144Asn | |
| XM_011534404.1:c.344G>A | XP_011532706.1:p.Ser115Asn | |
| NM_000232.5:c.641G>A MANE Select | NP_000223.1:p.Ser214Asn |