Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65239958T= , CM000674.2:g.65239958T= | GRCh38 |
| NC_000012.11:g.65633738T= , CM000674.1:g.65633738T= | GRCh37 |
| NC_000012.10:g.63920005T= | NCBI36 |
| NG_016210.1:g.75388T= | |
| NG_016210.2:g.75388T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.1951T= MANE Select | ENSP00000308369.2:p.Tyr651= | |
| ENST00000308330.2:c.1951T= | ENSP00000308369.2:p.Tyr651= | |
| NM_001167614.1:c.1948T= | NP_001161086.1:p.Tyr650= | |
| NM_014319.4:c.1951T= | NP_055134.2:p.Tyr651= | |
| NM_014319.5:c.1951T= MANE Select | NP_055134.2:p.Tyr651= | |
| NM_001167614.2:c.1948T= | NP_001161086.1:p.Tyr650= |