Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49094511A= , CM000674.2:g.49094511A= | GRCh38 |
| NC_000012.11:g.49488294A= , CM000674.1:g.49488294A= | GRCh37 |
| NC_000012.10:g.47774561A= | NCBI36 |
| NG_008973.1:g.5309T= | |
| NG_008973.2:g.5309T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021044.4:c.2T= MANE Select | NP_066382.1:p.Met1= |
| ENST00000649637.2:c.2T= MANE Select | ENSP00000497483.1:p.Met1= |
| NM_021044.2:c.2T= | NP_066382.1:p.Met1= |
| ENST00000266991.2:c.2T= | ENSP00000266991.2:p.Met1= |
| XR_001749126.1:n.1548+323A= | |
| XR_001749127.2:n.1364+323A= | |
| XR_001749128.1:n.332+323A= | |
| XR_944932.1:n.2211+323A= | |
| XR_944933.1:n.1868+323A= | |
| XR_944934.1:n.995+323A= |