Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.180803417G= , CM000663.2:g.180803417G= | GRCh38 |
| NC_000001.10:g.180772553G= , CM000663.1:g.180772553G= | GRCh37 |
| NC_000001.9:g.179039176G= | NCBI36 |
| NG_050964.1:g.176408G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367590.9:c.253G= MANE Select | ENSP00000356562.4:p.Ala85= | |
| ENST00000367589.3:c.253G= | ENSP00000356561.3:p.Ala85= | |
| ENST00000367590.8:c.253G= | ENSP00000356562.4:p.Ala85= | |
| NM_001135669.1:c.253G= | NP_001129141.1:p.Ala85= | |
| NM_004736.3:c.253G= | NP_004727.2:p.Ala85= | |
| NM_001328662.1:c.253G= | NP_001315591.1:p.Ala85= | |
| NR_137330.1:n.445G= | ||
| NM_001135669.2:c.253G= | NP_001129141.1:p.Ala85= | |
| NM_001328662.2:c.253G= | NP_001315591.1:p.Ala85= | |
| NM_004736.4:c.253G= MANE Select | NP_004727.2:p.Ala85= | |
| NR_137330.2:n.433G= |