Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177442377C= , CM000666.2:g.177442377C= | GRCh38 |
| NC_000004.11:g.178363531C= , CM000666.1:g.178363531C= | GRCh37 |
| NC_000004.10:g.178600525C= | NCBI36 |
| NG_011845.2:g.5127G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264595.7:c.-2G= MANE Select | ENSP00000264595.2:n.-2G= | |
| ENST00000264595.6:c.-2G= | ENSP00000264595.2:n.-2G= | |
| ENST00000506853.5:n.33G= | ||
| ENST00000510955.5:n.33G= | ||
| ENST00000511231.1:n.33G= | ||
| NM_000027.3:c.-2G= | NP_000018.2:n.-2G= | |
| NM_001171988.1:c.-2G= | NP_001165459.1:n.-2G= | |
| NR_033655.1:n.127G= | ||
| XM_006714123.2:c.-2G= | XP_006714186.1:n.-2G= | |
| XR_001741155.2:n.93G= | ||
| NM_000027.4:c.-2G= MANE Select | NP_000018.2:n.-2G= | |
| NM_001171988.2:c.-2G= | NP_001165459.1:n.-2G= | |
| NR_033655.2:n.61G= |