Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.33109339C>T , CM000669.2:g.33109339C>T | GRCh38 |
| NC_000007.13:g.33148951C>T , CM000669.1:g.33148951C>T | GRCh37 |
| NC_000007.12:g.33115476C>T | NCBI36 |
| NG_012968.1:g.5052G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_203288.2:c.34G>A MANE Select | NP_976033.1:p.Ala12Thr |
| ENST00000297157.8:c.34G>A MANE Select | ENSP00000297157.3:p.Ala12Thr |
| NM_203288.1:c.34G>A | NP_976033.1:p.Ala12Thr |
| ENST00000297157.7:c.34G>A | ENSP00000297157.3:p.Ala12Thr |
| ENST00000474370.1:n.63G>A | |
| ENST00000474370.2:n.63G>A | |
| ENST00000492391.2:n.64G>A | |
| ENST00000682645.1:n.67G>A | |
| ENST00000683432.1:c.34G>A | ENSP00000508174.1:p.Ala12Thr |
| ENST00000684207.1:c.34G>A | ENSP00000506942.1:p.Ala12Thr |