Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.77794468T>G , CM000671.2:g.77794468T>G | GRCh38 |
| NC_000009.11:g.80409384T>G , CM000671.1:g.80409384T>G | GRCh37 |
| NC_000009.10:g.79599204T>G | NCBI36 |
| NG_027904.2:g.241836A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286548.9:c.730A>C MANE Select | ENSP00000286548.4:p.Asn244His | |
| ENST00000286548.8:c.730A>C | ENSP00000286548.4:p.Asn244His | |
| NM_002072.4:c.730A>C | NP_002063.2:p.Asn244His | |
| XM_017014628.2:c.556A>C | XP_016870117.1:p.Asn186His | |
| NM_002072.5:c.730A>C MANE Select | NP_002063.2:p.Asn244His |