Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75005944A>G , CM000676.2:g.75005944A>G | GRCh38 |
| NC_000014.8:g.75472647A>G , CM000676.1:g.75472647A>G | GRCh37 |
| NC_000014.7:g.74542400A>G | NCBI36 |
| NG_013333.1:g.8036A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.676A>G MANE Select | ENSP00000266126.5:p.Met226Val | |
| ENST00000266126.9:c.676A>G | ENSP00000266126.5:p.Met226Val | |
| ENST00000553401.5:c.674A>G | ENSP00000451681.1:n.674A>G | |
| ENST00000554748.2:c.40A>G | ENSP00000452582.2:p.Met14Val | |
| ENST00000556028.5:c.*24A>G | ENSP00000452311.1:n.*24A>G | |
| NM_014239.3:c.676A>G | NP_055054.1:p.Met226Val | |
| NM_014239.4:c.676A>G MANE Select | NP_055054.1:p.Met226Val |