Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.96897762G>T , CM000668.2:g.96897762G>T | GRCh38 |
| NC_000006.11:g.97345638G>T , CM000668.1:g.97345638G>T | GRCh37 |
| NC_000006.10:g.97452359G>T | NCBI36 |
| NG_013379.1:g.5130C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316149.8:c.40C>A MANE Select | ENSP00000358272.4:p.Leu14Ile | |
| ENST00000316149.7:c.40C>A | ENSP00000358272.4:p.Leu14Ile | |
| ENST00000489477.1:n.113C>A | ||
| NM_014165.3:c.40C>A | NP_054884.1:p.Leu14Ile | |
| NM_014165.4:c.40C>A MANE Select | NP_054884.1:p.Leu14Ile |