Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31524802T>C , CM000680.2:g.31524802T>C | GRCh38 |
| NC_000018.9:g.29104765T>C , CM000680.1:g.29104765T>C | GRCh37 |
| NC_000018.8:g.27358763T>C | NCBI36 |
| NG_007072.3:g.31561T>C , LRG_397:g.31561T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682087.2:n.759T>C | ||
| ENST00000683614.2:n.759T>C | ||
| ENST00000682087.1:c.759T>C | ||
| ENST00000683614.1:c.759T>C | ||
| ENST00000261590.13:c.928T>C MANE Select | ENSP00000261590.8:p.Phe310Leu | |
| ENST00000261590.12:c.928T>C | ENSP00000261590.8:p.Phe310Leu | |
| NM_001943.3:c.928T>C , LRG_397t1:c.928T>C | NP_001934.2:p.Phe310Leu | |
| NM_001943.4:c.928T>C | NP_001934.2:p.Phe310Leu | |
| XM_024451095.1:c.394T>C | XP_024306863.1:p.Phe132Leu | |
| NM_001943.5:c.928T>C MANE Select | NP_001934.2:p.Phe310Leu |