Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177417A= , CM000678.2:g.177417A= | GRCh38 |
| NC_000016.9:g.227416A= , CM000678.1:g.227416A= | GRCh37 |
| NC_000016.8:g.167416A= | NCBI36 |
| NG_000006.1:g.38280A= | |
| NG_059186.1:g.5767A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320868.9:c.*6A= MANE Select | ENSP00000322421.5:n.*6A= | |
| ENST00000397797.1:c.*6A= | ENSP00000380899.1:n.*6A= | |
| ENST00000472694.1:n.571A= | ||
| NM_000558.4:c.*6A= | NP_000549.1:n.*6A= | |
| NM_000558.5:c.*6A= MANE Select | NP_000549.1:n.*6A= |