Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40784090G= , CM000663.2:g.40784090G= | GRCh38 |
| NC_000001.10:g.41249762G= , CM000663.1:g.41249762G= | GRCh37 |
| NC_000001.9:g.41022349G= | NCBI36 |
| NG_008139.1:g.5079G= | |
| NG_008139.2:g.5079G= | |
| NG_008139.3:g.5304G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347132.10:c.-4G= MANE Select | ENSP00000262916.6:n.-4G= | |
| ENST00000347132.9:c.-4G= | ENSP00000262916.6:n.-4G= | |
| NM_004700.3:c.-4G= | NP_004691.2:n.-4G= | |
| NM_172163.2:c.-4G= | NP_751895.1:n.-4G= | |
| XM_011542417.1:c.-4G= | XP_011540719.1:n.-4G= | |
| XM_011542418.1:c.-4G= | XP_011540720.1:n.-4G= | |
| XM_011542419.1:c.-4G= | XP_011540721.1:n.-4G= | |
| XM_011542420.1:c.-4G= | XP_011540722.1:n.-4G= | |
| XR_946798.1:n.3G= | ||
| XR_946799.1:n.3G= | ||
| XR_946800.1:n.3G= | ||
| NM_004700.4:c.-4G= MANE Select | NP_004691.2:n.-4G= | |
| NM_172163.3:c.-4G= | NP_751895.1:n.-4G= |