Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.10763732A>C , CM000673.2:g.10763732A>C | GRCh38 |
| NC_000011.9:g.10785279A>C , CM000673.1:g.10785279A>C | GRCh37 |
| NC_000011.8:g.10741855A>C | NCBI36 |
| NG_051671.1:g.17746A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361367.7:c.1047A>C MANE Select | ENSP00000355013.2:p.Gln349His | |
| ENST00000361367.6:c.1047A>C | ENSP00000355013.2:p.Gln349His | |
| ENST00000524523.1:c.900A>C | ENSP00000431458.1:p.Gln300His | |
| NM_014633.4:c.1047A>C | NP_055448.1:p.Gln349His | |
| NM_001346279.1:c.1047A>C | NP_001333208.1:p.Gln349His | |
| NM_014633.5:c.1047A>C MANE Select | NP_055448.1:p.Gln349His | |
| NM_001346279.2:c.1047A>C | NP_001333208.1:p.Gln349His |