Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.677766C>T , CM000667.2:g.677766C>T | GRCh38 |
| NC_000005.9:g.677881C>T , CM000667.1:g.677881C>T | GRCh37 |
| NC_000005.8:g.730881C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360578.7:c.295G>A MANE Select | ENSP00000353785.5:p.Val99Ile | |
| ENST00000360578.6:c.295G>A | ENSP00000353785.5:p.Val99Ile | |
| NM_007030.2:c.295G>A | NP_008961.1:p.Val99Ile | |
| XM_005248237.2:c.295G>A | XP_005248294.2:p.Val99Ile | |
| XM_005248237.3:c.295G>A | XP_005248294.2:p.Val99Ile | |
| XM_017008993.1:c.496G>A | XP_016864482.1:p.Val166Ile | |
| XM_024454346.1:c.295G>A | XP_024310114.1:p.Val99Ile | |
| NM_007030.3:c.295G>A MANE Select | NP_008961.1:p.Val99Ile |