Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43946375G>T , CM000684.2:g.43946375G>T | GRCh38 |
| NC_000022.10:g.44342255G>T , CM000684.1:g.44342255G>T | GRCh37 |
| NC_000022.9:g.42673588G>T | NCBI36 |
| NG_008631.1:g.27637G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216180.8:c.1439G>T MANE Select | ENSP00000216180.3:p.Ser480Ile | |
| ENST00000216180.7:c.1439G>T | ENSP00000216180.3:p.Ser480Ile | |
| ENST00000406117.6:c.*849+1580G>T | ENSP00000384668.2:n.*849+1580G>T | |
| ENST00000423180.2:c.1427G>T | ENSP00000397987.2:p.Ser476Ile | |
| NM_025225.2:c.1439G>T | NP_079501.2:p.Ser480Ile | |
| NM_025225.3:c.1439G>T MANE Select | NP_079501.2:p.Ser480Ile |