Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.33109368G>T , CM000669.2:g.33109368G>T | GRCh38 |
| NC_000007.13:g.33148980G>T , CM000669.1:g.33148980G>T | GRCh37 |
| NC_000007.12:g.33115505G>T | NCBI36 |
| NG_012968.1:g.5023C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_203288.2:c.5C>A MANE Select | NP_976033.1:p.Ser2Ter |
| ENST00000297157.8:c.5C>A MANE Select | ENSP00000297157.3:p.Ser2Ter |
| NM_203288.1:c.5C>A | NP_976033.1:p.Ser2Ter |
| ENST00000297157.7:c.5C>A | ENSP00000297157.3:p.Ser2Ter |
| ENST00000474370.1:n.34C>A | |
| ENST00000474370.2:n.34C>A | |
| ENST00000492391.2:n.35C>A | |
| ENST00000682645.1:n.38C>A | |
| ENST00000683432.1:c.5C>A | ENSP00000508174.1:p.Ser2Ter |
| ENST00000684207.1:c.5C>A | ENSP00000506942.1:p.Ser2Ter |