Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.129210407T>G , CM000669.2:g.129210407T>G | GRCh38 |
| NC_000007.13:g.128850248T>G , CM000669.1:g.128850248T>G | GRCh37 |
| NC_000007.12:g.128637484T>G | NCBI36 |
| NG_023340.1:g.26536T>G | |
| NG_023340.2:g.26536T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249373.8:c.1511T>G MANE Select | ENSP00000249373.3:p.Ile504Ser | |
| ENST00000655644.1:c.*1266T>G | ENSP00000499377.1:n.*1266T>G | |
| ENST00000249373.7:c.1511T>G | ENSP00000249373.3:p.Ile504Ser | |
| ENST00000462420.2:c.482T>G | ||
| NM_005631.4:c.1511T>G | NP_005622.1:p.Ile504Ser | |
| XM_011516522.1:c.1121T>G | XP_011514824.1:p.Ile374Ser | |
| XM_024446891.1:c.1121T>G | XP_024302659.1:p.Ile374Ser | |
| NM_005631.5:c.1511T>G MANE Select | NP_005622.1:p.Ile504Ser |