Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215817096T= , CM000663.2:g.215817096T= | GRCh38 |
| NC_000001.10:g.215990438T= , CM000663.1:g.215990438T= | GRCh37 |
| NC_000001.9:g.214057061T= | NCBI36 |
| NG_009497.1:g.611301A= | |
| NG_009497.2:g.611353A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.9471A= MANE Select | ENSP00000305941.3:p.Gln3157= | |
| ENST00000674083.1:c.9471A= | ENSP00000501296.1:p.Gln3157= | |
| ENST00000307340.7:c.9471A= | ENSP00000305941.3:p.Gln3157= | |
| NM_206933.2:c.9471A= | NP_996816.2:p.Gln3157= | |
| NM_206933.3:c.9471A= | NP_996816.2:p.Gln3157= | |
| NM_206933.4:c.9471A= MANE Select | NP_996816.3:p.Gln3157= |