Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186194504T>A , CM000666.2:g.186194504T>A | GRCh38 |
| NC_000004.11:g.187115658T>A , CM000666.1:g.187115658T>A | GRCh37 |
| NC_000004.10:g.187352652T>A | NCBI36 |
| NG_007965.1:g.7985T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.219T>A MANE Select | ENSP00000368079.4:p.Phe73Leu | |
| ENST00000378802.4:c.219T>A | ENSP00000368079.4:p.Phe73Leu | |
| NM_207352.3:c.219T>A | NP_997235.3:p.Phe73Leu | |
| XM_005262935.2:c.219T>A | XP_005262992.1:p.Phe73Leu | |
| XM_005262935.4:c.219T>A | XP_005262992.1:p.Phe73Leu | |
| XM_017008037.1:c.-92T>A | XP_016863526.1:n.-92T>A | |
| NM_207352.4:c.219T>A MANE Select | NP_997235.3:p.Phe73Leu |