Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.83908207T>G , CM000678.2:g.83908207T>G | GRCh38 |
| NC_000016.9:g.83941812T>G , CM000678.1:g.83941812T>G | GRCh37 |
| NC_000016.8:g.82499313T>G | NCBI36 |
| NG_009079.1:g.14083T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012213.3:c.723T>G MANE Select | NP_036345.2:p.Ser241= |
| ENST00000262430.6:c.723T>G MANE Select | ENSP00000262430.4:p.Ser241= |
| NM_012213.2:c.723T>G | NP_036345.2:p.Ser241= |
| ENST00000262430.5:c.723T>G | ENSP00000262430.4:p.Ser241= |
| ENST00000561562.5:c.76T>G | |
| ENST00000563312.5:c.33T>G | ENSP00000477143.1:p.Ser11= |
| ENST00000566309.2:c.33T>G | ENSP00000476300.1:p.Ser11= |