Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.93585396A>C , CM000667.2:g.93585396A>C | GRCh38 |
| NC_000005.9:g.92921102A>C , CM000667.1:g.92921102A>C | GRCh37 |
| NC_000005.8:g.92946858A>C | NCBI36 |
| NG_034119.1:g.7060A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615873.2:c.298A>C | ENSP00000481517.1:p.Asn100His | |
| ENST00000327111.8:c.373A>C MANE Select | ENSP00000325819.3:p.Asn125His | |
| ENST00000647447.1:c.220A>C | ENSP00000495740.1:p.Asn74His | |
| ENST00000327111.7:c.373A>C | ENSP00000325819.3:p.Asn125His | |
| ENST00000615873.1:c.298A>C | ENSP00000481517.1:p.Asn100His | |
| NM_005654.5:c.373A>C | NP_005645.1:p.Asn125His | |
| NM_005654.6:c.373A>C MANE Select | NP_005645.1:p.Asn125His |