Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.151181212T>G , CM000685.2:g.151181212T>G | GRCh38 |
| NC_000023.10:g.150349684T>G , CM000685.1:g.150349684T>G | GRCh37 |
| NC_000023.9:g.150100342T>G | NCBI36 |
| NG_016405.1:g.9629T>G | |
| NG_016405.2:g.9629T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218316.4:c.1629T>G MANE Select | ENSP00000218316.3:p.His543Gln | |
| ENST00000218316.3:c.1629T>G | ENSP00000218316.3:p.His543Gln | |
| ENST00000617907.1:c.1623T>G | ENSP00000484496.1:p.His541Gln | |
| NM_004224.3:c.1629T>G MANE Select | NP_004215.2:p.His543Gln | |
| XM_011531216.1:c.888T>G | XP_011529518.1:p.His296Gln | |
| XM_011531216.2:c.888T>G | XP_011529518.1:p.His296Gln |