Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115033487T>C , CM000663.2:g.115033487T>C | GRCh38 |
| NC_000001.10:g.115576108T>C , CM000663.1:g.115576108T>C | GRCh37 |
| NC_000001.9:g.115377631T>C | NCBI36 |
| NG_015891.1:g.8694T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256592.3:c.125T>C MANE Select | ENSP00000256592.1:p.Ile42Thr | |
| ENST00000256592.2:c.125T>C | ENSP00000256592.1:p.Ile42Thr | |
| ENST00000369517.1:c.125T>C | ENSP00000358530.1:p.Ile42Thr | |
| NM_000549.4:c.125T>C | NP_000540.2:p.Ile42Thr | |
| XM_011542065.1:c.125T>C | XP_011540367.1:p.Ile42Thr | |
| XM_011542065.2:c.125T>C | XP_011540367.1:p.Ile42Thr | |
| NM_000549.5:c.125T>C MANE Select | NP_000540.2:p.Ile42Thr |