Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2171806G= , CM000673.2:g.2171806G= | GRCh38 |
| NC_000011.9:g.2193036G= , CM000673.1:g.2193036G= | GRCh37 |
| NC_000011.8:g.2149612G= | NCBI36 |
| NG_008128.1:g.5000C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.8:c.-20C= MANE Select | ENSP00000325951.4:n.-20C= | |
| ENST00000352909.7:c.-20C= | ENSP00000325951.3:n.-20C= | |
| XM_011520335.1:c.-20C= | XP_011518637.1:n.-20C= | |
| XM_011520335.2:c.-20C= | XP_011518637.1:n.-20C= | |
| NM_000360.4:c.-20C= MANE Select | NP_000351.2:n.-20C= | |
| NM_199292.3:c.-20C= | NP_954986.2:n.-20C= | |
| NM_199293.3:c.-20C= | NP_954987.2:n.-20C= |