Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43928830G>T , CM000684.2:g.43928830G>T | GRCh38 |
| NC_000022.10:g.44324710G>T , CM000684.1:g.44324710G>T | GRCh37 |
| NC_000022.9:g.42656043G>T | NCBI36 |
| NG_008631.1:g.10092G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216180.8:c.427G>T MANE Select | ENSP00000216180.3:p.Val143Leu | |
| ENST00000216180.7:c.427G>T | ENSP00000216180.3:p.Val143Leu | |
| ENST00000406117.6:c.*59G>T | ENSP00000384668.2:n.*59G>T | |
| ENST00000423180.2:c.415G>T | ENSP00000397987.2:p.Val139Leu | |
| ENST00000478713.1:n.461G>T | ||
| NM_025225.2:c.427G>T | NP_079501.2:p.Val143Leu | |
| NM_025225.3:c.427G>T MANE Select | NP_079501.2:p.Val143Leu |