Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65239966A= , CM000674.2:g.65239966A= | GRCh38 |
| NC_000012.11:g.65633746A= , CM000674.1:g.65633746A= | GRCh37 |
| NC_000012.10:g.63920013A= | NCBI36 |
| NG_016210.1:g.75396A= | |
| NG_016210.2:g.75396A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.1959A= MANE Select | ENSP00000308369.2:p.Lys653= | |
| ENST00000308330.2:c.1959A= | ENSP00000308369.2:p.Lys653= | |
| NM_001167614.1:c.1956A= | NP_001161086.1:p.Lys652= | |
| NM_014319.4:c.1959A= | NP_055134.2:p.Lys653= | |
| NM_014319.5:c.1959A= MANE Select | NP_055134.2:p.Lys653= | |
| NM_001167614.2:c.1956A= | NP_001161086.1:p.Lys652= |