Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940178A>G , CM000678.2:g.67940178A>G | GRCh38 |
| NC_000016.9:g.67974081A>G , CM000678.1:g.67974081A>G | GRCh37 |
| NC_000016.8:g.66531582A>G | NCBI36 |
| NG_009778.1:g.8935T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.1049T>C MANE Select | ENSP00000264005.5:p.Ile350Thr | |
| ENST00000264005.9:c.1049T>C | ENSP00000264005.5:p.Ile350Thr | |
| ENST00000570369.5:c.156-104T>C | ||
| ENST00000573538.5:c.787T>C | ENSP00000463220.1:n.787T>C | |
| NM_000229.1:c.1049T>C | NP_000220.1:p.Ile350Thr | |
| NM_000229.2:c.1049T>C MANE Select | NP_000220.1:p.Ile350Thr |