Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.17139007G= , CM000678.2:g.17139007G= | GRCh38 |
| NC_000016.9:g.17232864G= , CM000678.1:g.17232864G= | GRCh37 |
| NC_000016.8:g.17140365G= | NCBI36 |
| NG_015843.1:g.336875C= | |
| NG_015843.2:g.336875C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261381.7:c.1588-476C= MANE Select | ENSP00000261381.6:n.1588-476C= | |
| ENST00000261381.6:c.1588-476C= | ENSP00000261381.6:n.1588-476C= | |
| NM_022166.3:c.1588-476C= | NP_071449.1:n.1588-476C= | |
| XM_011522574.1:c.1588-476C= | XP_011520876.1:n.1588-476C= | |
| XM_017023539.2:c.1588-476C= | XP_016879028.1:n.1588-476C= | |
| XM_017023540.2:c.1588-476C= | XP_016879029.1:n.1588-476C= | |
| NM_022166.4:c.1588-476C= MANE Select | NP_071449.1:n.1588-476C= |