Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128304782G= , CM000667.2:g.128304782G= | GRCh38 |
| NC_000005.9:g.127640474G= , CM000667.1:g.127640474G= | GRCh37 |
| NC_000005.8:g.127668373G= | NCBI36 |
| NG_008750.1:g.238262C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.2584+175C= | ||
| ENST00000703785.1:n.2503+175C= | ||
| ENST00000262464.9:c.5800+175C= MANE Select | ENSP00000262464.4:n.5800+175C= | |
| ENST00000262464.8:c.5800+175C= | ENSP00000262464.4:n.5800+175C= | |
| ENST00000508053.5:c.5800+175C= | ENSP00000424571.1:n.5800+175C= | |
| ENST00000619499.4:c.5797+175C= | ENSP00000482132.1:n.5797+175C= | |
| NM_001999.3:c.5800+175C= | NP_001990.2:n.5800+175C= | |
| XM_017009228.2:c.5647+175C= | XP_016864717.1:n.5647+175C= | |
| NM_001999.4:c.5800+175C= MANE Select | NP_001990.2:n.5800+175C= |