Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.47406890C= , CM000666.2:g.47406890C= | GRCh38 |
| NC_000004.11:g.47408907C= , CM000666.1:g.47408907C= | GRCh37 |
| NC_000004.10:g.47103664C= | NCBI36 |
| NG_051831.1:g.380613C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295454.8:c.1044C= MANE Select | ENSP00000295454.3:p.Ala348= | |
| ENST00000295454.7:c.1044C= | ENSP00000295454.3:p.Ala348= | |
| NM_000812.3:c.1044C= | NP_000803.2:p.Ala348= | |
| XM_011513678.1:c.1023C= | XP_011511980.1:p.Ala341= | |
| XM_017007985.1:c.393C= | XP_016863474.1:p.Ala131= | |
| XM_024453976.1:c.945C= | XP_024309744.1:p.Ala315= | |
| XM_024453977.1:c.945C= | XP_024309745.1:p.Ala315= | |
| XM_024453978.1:c.945C= | XP_024309746.1:p.Ala315= | |
| NM_000812.4:c.1044C= MANE Select | NP_000803.2:p.Ala348= |