Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91272808G>T , CM000676.2:g.91272808G>T | GRCh38 |
| NC_000014.8:g.91739152G>T , CM000676.1:g.91739152G>T | GRCh37 |
| NC_000014.7:g.90808905G>T | NCBI36 |
| NG_033118.1:g.150037C>A | |
| NG_033118.2:g.150037C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.5904C>A MANE Select | ENSP00000374507.6:p.Val1968= | |
| ENST00000331194.8:c.1338C>A | ENSP00000330332.8:p.Val446= | |
| ENST00000389857.10:c.5904C>A | ENSP00000374507.6:p.Val1968= | |
| ENST00000556726.5:c.2132C>A | ||
| NM_001080414.3:c.5904C>A | NP_001073883.2:p.Val1968= | |
| XM_011536796.1:c.5796C>A | XP_011535098.1:p.Val1932= | |
| XM_011536796.2:c.5796C>A | XP_011535098.1:p.Val1932= | |
| XM_017021336.1:c.2985C>A | XP_016876825.1:p.Val995= | |
| NM_001080414.4:c.5904C>A MANE Select | NP_001073883.2:p.Val1968= |