Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128317243C= , CM000667.2:g.128317243C= | GRCh38 |
| NC_000005.9:g.127652935C= , CM000667.1:g.127652935C= | GRCh37 |
| NC_000005.8:g.127680834C= | NCBI36 |
| NG_008750.1:g.225801G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.1501+906G= | ||
| ENST00000703785.1:n.1582+906G= | ||
| ENST00000262464.9:c.4717+906G= MANE Select | ENSP00000262464.4:n.4717+906G= | |
| ENST00000262464.8:c.4717+906G= | ENSP00000262464.4:n.4717+906G= | |
| ENST00000508053.5:c.4717+906G= | ENSP00000424571.1:n.4717+906G= | |
| ENST00000619499.4:c.4714+906G= | ENSP00000482132.1:n.4714+906G= | |
| NM_001999.3:c.4717+906G= | NP_001990.2:n.4717+906G= | |
| XM_017009228.2:c.4564+906G= | XP_016864717.1:n.4564+906G= | |
| NM_001999.4:c.4717+906G= MANE Select | NP_001990.2:n.4717+906G= |