Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40848370A>G , CM000681.2:g.40848370A>G | GRCh38 |
| NC_000019.9:g.41354275A>G , CM000681.1:g.41354275A>G | GRCh37 |
| NC_000019.8:g.46046115A>G | NCBI36 |
| NG_008377.1:g.7078T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301141.10:c.503T>C MANE Select | ENSP00000301141.4:p.Ile168Thr | |
| ENST00000301141.9:c.503T>C | ENSP00000301141.4:p.Ile168Thr | |
| ENST00000596719.5:n.354T>C | ||
| ENST00000600495.1:c.*315T>C | ENSP00000472905.1:n.*315T>C | |
| ENST00000601627.1:c.120-43621A>G | ||
| ENST00000610301.1:c.503T>C | ENSP00000477899.1:p.Ile168Thr | |
| NM_000762.5:c.503T>C | NP_000753.3:p.Ile168Thr | |
| NM_000762.6:c.503T>C MANE Select | NP_000753.3:p.Ile168Thr |