Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134408164A>C , CM000671.2:g.134408164A>C | GRCh38 |
| NC_000009.11:g.137300010A>C , CM000671.1:g.137300010A>C | GRCh37 |
| NC_000009.10:g.136439831A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481739.2:c.295A>C MANE Select | ENSP00000419692.1:p.Asn99His | |
| ENST00000672570.1:c.214A>C | ENSP00000500402.1:p.Asn72His | |
| ENST00000356384.4:n.705A>C | ||
| ENST00000481739.1:c.295A>C | ENSP00000419692.1:p.Asn99His | |
| NM_001291920.1:c.214A>C | NP_001278849.1:p.Asn72His | |
| NM_001291921.1:c.4A>C | NP_001278850.1:p.Asn2His | |
| NM_002957.5:c.295A>C | NP_002948.1:p.Asn99His | |
| NM_002957.6:c.295A>C MANE Select | NP_002948.1:p.Asn99His | |
| NM_001291921.2:c.4A>C | NP_001278850.1:p.Asn2His | |
| NM_001291920.2:c.214A>C | NP_001278849.1:p.Asn72His |