Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41842209A>C , CM000679.2:g.41842209A>C | GRCh38 |
| NC_000017.10:g.39998461A>C , CM000679.1:g.39998461A>C | GRCh37 |
| NC_000017.9:g.37251987A>C | NCBI36 |
| NG_051246.1:g.11525A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293303.5:c.581A>C MANE Select | ENSP00000293303.4:p.Glu194Ala | |
| ENST00000293303.4:c.581A>C | ENSP00000293303.4:p.Glu194Ala | |
| NM_152467.3:c.581A>C | NP_689680.2:p.Glu194Ala | |
| XM_011524706.1:c.581A>C | XP_011523008.1:p.Glu194Ala | |
| NM_001329595.1:c.581A>C | NP_001316524.1:p.Glu194Ala | |
| NM_001329596.1:c.317A>C | NP_001316525.1:p.Glu106Ala | |
| NM_152467.4:c.581A>C | NP_689680.2:p.Glu194Ala | |
| NM_001329596.2:c.317A>C | NP_001316525.1:p.Glu106Ala | |
| NM_152467.5:c.581A>C MANE Select | NP_689680.2:p.Glu194Ala |