Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49635127G>T , CM000676.2:g.49635127G>T | GRCh38 |
| NC_000014.8:g.50101845G>T , CM000676.1:g.50101845G>T | GRCh37 |
| NC_000014.7:g.49171595G>T | NCBI36 |
| NG_013070.1:g.5104C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298292.13:c.23C>A MANE Select | ENSP00000298292.8:p.Ser8Ter | |
| ENST00000298292.12:c.23C>A | ENSP00000298292.8:p.Ser8Ter | |
| ENST00000406043.3:c.23C>A | ENSP00000384862.3:p.Ser8Ter | |
| NM_001083908.1:c.23C>A | NP_001077377.1:p.Ser8Ter | |
| NM_018139.2:c.23C>A | NP_060609.2:p.Ser8Ter | |
| NM_001083908.2:c.23C>A | NP_001077377.1:p.Ser8Ter | |
| NM_018139.3:c.23C>A MANE Select | NP_060609.2:p.Ser8Ter |