Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10640828C>T , CM000682.2:g.10640828C>T | GRCh38 |
| NC_000020.10:g.10621476C>T , CM000682.1:g.10621476C>T | GRCh37 |
| NC_000020.9:g.10569476C>T | NCBI36 |
| NG_007496.1:g.38219G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.3154G>A MANE Select | NP_000205.1:p.Val1052Ile |
| ENST00000254958.10:c.3154G>A MANE Select | ENSP00000254958.4:p.Val1052Ile |
| NM_000214.2:c.3154G>A | NP_000205.1:p.Val1052Ile |
| ENST00000254958.9:c.3154G>A | ENSP00000254958.4:p.Val1052Ile |
| ENST00000423891.6:n.3020G>A | |
| ENST00000617357.1:n.449G>A |