Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.134200495T>G , CM000666.2:g.134200495T>G | GRCh38 |
| NC_000004.11:g.135121650T>G , CM000666.1:g.135121650T>G | GRCh37 |
| NC_000004.10:g.135341100T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421491.4:c.525A>C MANE Select | ENSP00000463233.1:p.Arg175= | |
| ENST00000421491.3:c.525A>C | ENSP00000463233.1:p.Arg175= | |
| NM_001114734.1:c.699A>C | NP_001108206.2:p.Arg233= | |
| NM_001114734.2:c.525A>C MANE Select | NP_001108206.3:p.Arg175= | |
| NM_001363585.1:c.525A>C | NP_001350514.1:p.Arg175= | |
| XR_001741133.1:n.1064A>C | ||
| XR_001741134.1:n.1064A>C | ||
| XR_001741135.1:n.1064A>C | ||
| XR_001741136.1:n.1064A>C | ||
| XR_001741137.1:n.1064A>C | ||
| XR_001741138.1:n.1064A>C | ||
| XR_001741139.1:n.1059A>C |