Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169485555G= , CM000663.2:g.169485555G= | GRCh38 |
| NC_000001.10:g.169454793G= , CM000663.1:g.169454793G= | GRCh37 |
| NC_000001.9:g.167721417G= | NCBI36 |
| NG_008255.1:g.5416C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236137.10:c.204+8C= MANE Select | ENSP00000236137.5:n.204+8C= | |
| ENST00000646596.1:c.204+8C= | ENSP00000494404.1:n.204+8C= | |
| ENST00000236137.9:c.204+8C= | ENSP00000236137.5:n.204+8C= | |
| ENST00000367804.4:c.204+8C= | ENSP00000356778.3:n.204+8C= | |
| NM_006996.2:c.204+8C= | NP_008927.1:n.204+8C= | |
| XM_011509076.1:c.12+498C= | XP_011507378.1:n.12+498C= | |
| XM_011509077.1:c.204+8C= | XP_011507379.1:n.204+8C= | |
| NM_001319667.1:c.204+8C= | NP_001306596.1:n.204+8C= | |
| NM_006996.3:c.204+8C= MANE Select | NP_008927.1:n.204+8C= |