Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186197539C= , CM000666.2:g.186197539C= | GRCh38 |
| NC_000004.11:g.187118693C= , CM000666.1:g.187118693C= | GRCh37 |
| NC_000004.10:g.187355687C= | NCBI36 |
| NG_007965.1:g.11020C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.611C= MANE Select | ENSP00000368079.4:p.Ala204= | |
| ENST00000378802.4:c.611C= | ENSP00000368079.4:p.Ala204= | |
| ENST00000507209.5:n.1452C= | ||
| NM_207352.3:c.611C= | NP_997235.3:p.Ala204= | |
| XM_005262935.2:c.611C= | XP_005262992.1:p.Ala204= | |
| XM_006714184.2:c.215C= | XP_006714247.1:p.Ala72= | |
| XM_005262935.4:c.611C= | XP_005262992.1:p.Ala204= | |
| XM_017008037.1:c.215C= | XP_016863526.1:p.Ala72= | |
| NM_207352.4:c.611C= MANE Select | NP_997235.3:p.Ala204= |