Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.22843344C>T , CM000676.2:g.22843344C>T | GRCh38 |
| NC_000014.8:g.23312553C>T , CM000676.1:g.23312553C>T | GRCh37 |
| NC_000014.7:g.22382393C>T | NCBI36 |
| NG_046989.1:g.11812C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311852.11:c.776C>T MANE Select | ENSP00000308208.6:p.Pro259Leu | |
| ENST00000548162.2:c.776C>T | ENSP00000506068.1:p.Pro259Leu | |
| ENST00000680097.1:c.*91C>T | ENSP00000506631.1:n.*91C>T | |
| ENST00000680941.1:c.*174C>T | ENSP00000506378.1:n.*174C>T | |
| ENST00000311852.10:c.776C>T | ENSP00000308208.6:p.Pro259Leu | |
| ENST00000548162.1:n.1018C>T | ||
| NM_004995.3:c.776C>T | NP_004986.1:p.Pro259Leu | |
| NM_004995.4:c.776C>T MANE Select | NP_004986.1:p.Pro259Leu |