Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.47406891A>C , CM000666.2:g.47406891A>C | GRCh38 |
| NC_000004.11:g.47408908A>C , CM000666.1:g.47408908A>C | GRCh37 |
| NC_000004.10:g.47103665A>C | NCBI36 |
| NG_051831.1:g.380614A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295454.8:c.1045A>C MANE Select | ENSP00000295454.3:p.Asn349His | |
| ENST00000295454.7:c.1045A>C | ENSP00000295454.3:p.Asn349His | |
| NM_000812.3:c.1045A>C | NP_000803.2:p.Asn349His | |
| XM_011513678.1:c.1024A>C | XP_011511980.1:p.Asn342His | |
| XM_017007985.1:c.394A>C | XP_016863474.1:p.Asn132His | |
| XM_024453976.1:c.946A>C | XP_024309744.1:p.Asn316His | |
| XM_024453977.1:c.946A>C | XP_024309745.1:p.Asn316His | |
| XM_024453978.1:c.946A>C | XP_024309746.1:p.Asn316His | |
| NM_000812.4:c.1045A>C MANE Select | NP_000803.2:p.Asn349His |