Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136046407G>T , CM000667.2:g.136046407G>T | GRCh38 |
| NC_000005.9:g.135382096G>T , CM000667.1:g.135382096G>T | GRCh37 |
| NC_000005.8:g.135409995G>T | NCBI36 |
| NG_012646.1:g.22513G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.371G>T MANE Select | ENSP00000416330.2:p.Arg124Leu | |
| ENST00000442011.6:c.371G>T | ENSP00000416330.2:p.Arg124Leu | |
| ENST00000504185.5:n.528G>T | ||
| ENST00000506699.5:n.436G>T | ||
| ENST00000507018.5:c.288G>T | ||
| ENST00000515433.1:n.663G>T | ||
| NM_000358.2:c.371G>T | NP_000349.1:p.Arg124Leu | |
| NM_000358.3:c.371G>T MANE Select | NP_000349.1:p.Arg124Leu |