Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75003274G>T , CM000676.2:g.75003274G>T | GRCh38 |
| NC_000014.8:g.75469977G>T , CM000676.1:g.75469977G>T | GRCh37 |
| NC_000014.7:g.74539730G>T | NCBI36 |
| NG_013333.1:g.5366G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.164-1G>T MANE Select | ENSP00000266126.5:n.164-1G>T | |
| ENST00000266126.9:c.164-1G>T | ENSP00000266126.5:n.164-1G>T | |
| ENST00000553401.5:c.137-1G>T | ENSP00000451681.1:n.137-1G>T | |
| ENST00000553539.1:n.303G>T | ||
| ENST00000555522.1:n.222-1G>T | ||
| ENST00000556028.5:c.164-1G>T | ENSP00000452311.1:n.164-1G>T | |
| NM_014239.3:c.164-1G>T | NP_055054.1:n.164-1G>T | |
| NM_014239.4:c.164-1G>T MANE Select | NP_055054.1:n.164-1G>T |