Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.141955441A>G , CM000667.2:g.141955441A>G | GRCh38 |
| NC_000005.9:g.141335006A>G , CM000667.1:g.141335006A>G | GRCh37 |
| NC_000005.8:g.141315190A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231484.4:c.2411T>C MANE Select | ENSP00000231484.3:p.Met804Thr | |
| ENST00000231484.3:c.2411T>C | ENSP00000231484.3:p.Met804Thr | |
| NM_016580.3:c.2411T>C | NP_057664.1:p.Met804Thr | |
| XR_944366.1:n.3118-195A>G | ||
| XM_024446106.1:c.2411T>C | XP_024301874.1:p.Met804Thr | |
| NM_016580.4:c.2411T>C MANE Select | NP_057664.1:p.Met804Thr |