Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75003368T>C , CM000676.2:g.75003368T>C | GRCh38 |
| NC_000014.8:g.75470071T>C , CM000676.1:g.75470071T>C | GRCh37 |
| NC_000014.7:g.74539824T>C | NCBI36 |
| NG_013333.1:g.5460T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.257T>C MANE Select | ENSP00000266126.5:p.Leu86Pro | |
| ENST00000266126.9:c.257T>C | ENSP00000266126.5:p.Leu86Pro | |
| ENST00000553401.5:c.230T>C | ENSP00000451681.1:p.Leu77Pro | |
| ENST00000553539.1:n.397T>C | ||
| ENST00000555522.1:n.315T>C | ||
| ENST00000556028.5:c.257T>C | ENSP00000452311.1:p.Leu86Pro | |
| NM_014239.3:c.257T>C | NP_055054.1:p.Leu86Pro | |
| NM_014239.4:c.257T>C MANE Select | NP_055054.1:p.Leu86Pro |