Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160736976T= , CM000668.2:g.160736976T= | GRCh38 |
| NC_000006.11:g.161158008T= , CM000668.1:g.161158008T= | GRCh37 |
| NC_000006.10:g.161077998T= | NCBI36 |
| NG_016200.1:g.39784T= , LRG_571:g.39784T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297289.9:c.724T= | ENSP00000516619.1:p.Ser242= | |
| ENST00000418964.2:c.1822T= | ENSP00000389424.2:p.Ser608= | |
| ENST00000706906.1:c.*1791T= | ENSP00000516618.1:n.*1791T= | |
| ENST00000308192.14:c.1771T= MANE Select | ENSP00000308938.9:p.Ser591= | |
| ENST00000308192.13:c.1771T= | ENSP00000308938.9:p.Ser591= | |
| NM_000301.3:c.1771T= , LRG_571t1:c.1771T= | NP_000292.1:p.Ser591= | |
| NM_000301.4:c.1771T= | NP_000292.1:p.Ser591= | |
| NM_000301.5:c.1771T= MANE Select | NP_000292.1:p.Ser591= |