Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.47406800C>T , CM000666.2:g.47406800C>T | GRCh38 |
| NC_000004.11:g.47408817C>T , CM000666.1:g.47408817C>T | GRCh37 |
| NC_000004.10:g.47103574C>T | NCBI36 |
| NG_051831.1:g.380523C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295454.8:c.954C>T MANE Select | ENSP00000295454.3:p.Phe318= | |
| ENST00000295454.7:c.954C>T | ENSP00000295454.3:p.Phe318= | |
| NM_000812.3:c.954C>T | NP_000803.2:p.Phe318= | |
| XM_011513678.1:c.933C>T | XP_011511980.1:p.Phe311= | |
| XM_017007985.1:c.303C>T | XP_016863474.1:p.Phe101= | |
| XM_024453976.1:c.855C>T | XP_024309744.1:p.Phe285= | |
| XM_024453977.1:c.855C>T | XP_024309745.1:p.Phe285= | |
| XM_024453978.1:c.855C>T | XP_024309746.1:p.Phe285= | |
| NM_000812.4:c.954C>T MANE Select | NP_000803.2:p.Phe318= |