Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86670875A>G , CM000670.2:g.86670875A>G | GRCh38 |
| NC_000008.10:g.87683103A>G , CM000670.1:g.87683103A>G | GRCh37 |
| NC_000008.9:g.87752219A>G | NCBI36 |
| NG_016980.1:g.77801T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.493+69T>C MANE Select | ENSP00000316605.5:n.493+69T>C | |
| ENST00000680314.1:n.254+69T>C | ||
| ENST00000681746.1:c.493+69T>C | ENSP00000505959.1:n.493+69T>C | |
| ENST00000320005.5:c.493+69T>C | ENSP00000316605.5:n.493+69T>C | |
| NM_019098.4:c.493+69T>C | NP_061971.3:n.493+69T>C | |
| XM_011517138.1:c.79+69T>C | XP_011515440.1:n.79+69T>C | |
| XM_011517138.2:c.79+69T>C | XP_011515440.1:n.79+69T>C | |
| NM_019098.5:c.493+69T>C MANE Select | NP_061971.3:n.493+69T>C |