Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116832830T>A , CM000673.2:g.116832830T>A | GRCh38 |
| NC_000011.9:g.116703546T>A , CM000673.1:g.116703546T>A | GRCh37 |
| NC_000011.8:g.116208756T>A | NCBI36 |
| NG_008949.1:g.7923T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000227667.8:c.246T>A MANE Select | ENSP00000227667.2:p.Ser82= | |
| ENST00000227667.7:c.246T>A | ENSP00000227667.2:p.Ser82= | |
| ENST00000375345.3:c.300T>A | ENSP00000364494.1:p.Ser100= | |
| ENST00000630701.1:c.300T>A | ENSP00000486182.1:p.Ser100= | |
| NM_000040.1:c.246T>A | NP_000031.1:p.Ser82= | |
| NM_000040.2:c.246T>A | NP_000031.1:p.Ser82= | |
| NM_000040.3:c.246T>A MANE Select | NP_000031.1:p.Ser82= |