Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.22843307C>A , CM000676.2:g.22843307C>A | GRCh38 |
| NC_000014.8:g.23312516C>A , CM000676.1:g.23312516C>A | GRCh37 |
| NC_000014.7:g.22382356C>A | NCBI36 |
| NG_046989.1:g.11775C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311852.11:c.739C>A MANE Select | ENSP00000308208.6:p.Leu247Ile | |
| ENST00000548162.2:c.739C>A | ENSP00000506068.1:p.Leu247Ile | |
| ENST00000680097.1:c.*54C>A | ENSP00000506631.1:n.*54C>A | |
| ENST00000680941.1:c.*137C>A | ENSP00000506378.1:n.*137C>A | |
| ENST00000311852.10:c.739C>A | ENSP00000308208.6:p.Leu247Ile | |
| ENST00000548162.1:n.981C>A | ||
| NM_004995.3:c.739C>A | NP_004986.1:p.Leu247Ile | |
| NM_004995.4:c.739C>A MANE Select | NP_004986.1:p.Leu247Ile |