Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.153990790C= , CM000663.2:g.153990790C= | GRCh38 |
| NC_000001.10:g.153963266C= , CM000663.1:g.153963266C= | GRCh37 |
| NC_000001.9:g.152229890C= | NCBI36 |
| NG_053102.2:g.5036C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643794.1:c.-7C= | ENSP00000495765.1:n.-7C= | |
| ENST00000651669.1:c.-7C= MANE Select | ENSP00000499044.1:n.-7C= | |
| ENST00000368567.4:c.-7C= | ENSP00000357555.4:n.-7C= | |
| ENST00000392558.4:c.-7C= | ENSP00000376341.4:n.-7C= | |
| ENST00000477151.1:n.28C= | ||
| ENST00000493224.5:n.28C= | ||
| NM_001030.4:c.-7C= | NP_001021.1:n.-7C= | |
| NM_001030.6:c.-7C= MANE Select | NP_001021.1:n.-7C= | |
| NM_001349946.1:c.-224C= | NP_001336875.1:n.-224C= | |
| NM_001349947.1:c.-335C= | NP_001336876.1:n.-335C= | |
| NM_001349946.2:c.-224C= | NP_001336875.1:n.-224C= | |
| NM_001349947.2:c.-335C= | NP_001336876.1:n.-335C= |