Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142957908C>A , CM000669.2:g.142957908C>A | GRCh38 |
| NC_000007.13:g.142654995C>A , CM000669.1:g.142654995C>A | GRCh37 |
| NC_000007.12:g.142365117C>A | NCBI36 |
| NG_007492.1:g.9509G>T | |
| NG_007492.2:g.9509G>T | |
| NG_007492.3:g.9509G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355265.7:c.591G>T MANE Select | ENSP00000347409.2:p.Leu197= | |
| ENST00000467543.6:c.*443G>T | ENSP00000420011.2:n.*443G>T | |
| ENST00000355265.6:c.591G>T | ENSP00000347409.2:p.Leu197= | |
| ENST00000467543.5:c.534G>T | ENSP00000420011.1:p.Leu178= | |
| ENST00000476829.5:c.525+396G>T | ENSP00000419889.1:n.525+396G>T | |
| ENST00000479768.6:n.709G>T | ||
| ENST00000494148.1:n.190G>T | ||
| NM_000420.2:c.591G>T | NP_000411.1:p.Leu197= | |
| XM_005249993.2:c.627G>T | XP_005250050.1:p.Leu209= | |
| NM_000420.3:c.591G>T MANE Select | NP_000411.1:p.Leu197= |