Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65188433T= , CM000674.2:g.65188433T= | GRCh38 |
| NC_000012.11:g.65582213T= , CM000674.1:g.65582213T= | GRCh37 |
| NC_000012.10:g.63868480T= | NCBI36 |
| NG_016210.1:g.23863T= | |
| NG_016210.2:g.23863T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.1522+17315T= MANE Select | ENSP00000308369.2:n.1522+17315T= | |
| ENST00000308330.2:c.1522+17315T= | ENSP00000308369.2:n.1522+17315T= | |
| ENST00000541171.1:n.836+18015T= | ||
| NM_001167614.1:c.1522+17315T= | NP_001161086.1:n.1522+17315T= | |
| NM_014319.4:c.1522+17315T= | NP_055134.2:n.1522+17315T= | |
| NM_014319.5:c.1522+17315T= MANE Select | NP_055134.2:n.1522+17315T= | |
| NM_001167614.2:c.1522+17315T= | NP_001161086.1:n.1522+17315T= |