Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94401379C= , CM000669.2:g.94401379C= | GRCh38 |
| NC_000007.13:g.94030691C= , CM000669.1:g.94030691C= | GRCh37 |
| NC_000007.12:g.93868627C= | NCBI36 |
| NG_007405.1:g.11819C= , LRG_2:g.11819C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.226-188C= MANE Select | ENSP00000297268.6:n.226-188C= | |
| ENST00000297268.10:c.226-188C= | ENSP00000297268.6:n.226-188C= | |
| ENST00000620463.1:c.220-188C= | ENSP00000477719.1:n.220-188C= | |
| NM_000089.3:c.226-188C= , LRG_2t1:c.226-188C= | NP_000080.2:n.226-188C= | |
| NM_000089.4:c.226-188C= MANE Select | NP_000080.2:n.226-188C= |