Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186194509A>C , CM000666.2:g.186194509A>C | GRCh38 |
| NC_000004.11:g.187115663A>C , CM000666.1:g.187115663A>C | GRCh37 |
| NC_000004.10:g.187352657A>C | NCBI36 |
| NG_007965.1:g.7990A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.224A>C MANE Select | ENSP00000368079.4:p.Gln75Pro | |
| ENST00000378802.4:c.224A>C | ENSP00000368079.4:p.Gln75Pro | |
| NM_207352.3:c.224A>C | NP_997235.3:p.Gln75Pro | |
| XM_005262935.2:c.224A>C | XP_005262992.1:p.Gln75Pro | |
| XM_005262935.4:c.224A>C | XP_005262992.1:p.Gln75Pro | |
| XM_017008037.1:c.-87A>C | XP_016863526.1:n.-87A>C | |
| NM_207352.4:c.224A>C MANE Select | NP_997235.3:p.Gln75Pro |