Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6586214C>T , CM000681.2:g.6586214C>T | GRCh38 |
| NC_000019.9:g.6586225C>T , CM000681.1:g.6586225C>T | GRCh37 |
| NC_000019.8:g.6537225C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001252.5:c.388G>A MANE Select | NP_001243.1:p.Val130Met |
| ENST00000245903.4:c.388G>A MANE Select | ENSP00000245903.2:p.Val130Met |
| NM_001252.4:c.388G>A | NP_001243.1:p.Val130Met |
| NM_001330332.1:c.388G>A | NP_001317261.1:p.Val130Met |
| NM_001330332.2:c.388G>A | NP_001317261.1:p.Val130Met |
| ENST00000245903.3:c.388G>A | ENSP00000245903.2:p.Val130Met |
| ENST00000423145.7:c.388G>A | ENSP00000395294.2:p.Val130Met |