Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.62216875A>G , CM000674.2:g.62216875A>G | GRCh38 |
| NC_000012.11:g.62610656A>G , CM000674.1:g.62610656A>G | GRCh37 |
| NC_000012.10:g.60896923A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547919.1:n.194-9625T>C | ||
| ENST00000549379.5:c.-212+41888T>C | ENSP00000447584.1:n.-212+41888T>C | |
| ENST00000549456.5:n.425-9625T>C | ||
| ENST00000551619.5:c.-130+41888T>C | ENSP00000447305.1:n.-130+41888T>C | |
| ENST00000552075.5:c.2+41888T>C | ENSP00000449516.1:n.2+41888T>C | |
| XM_011538273.1:c.-130+41888T>C | XP_011536575.1:n.-130+41888T>C | |
| XM_024448962.1:c.146+41888T>C | XP_024304730.1:n.146+41888T>C | |
| XM_024448963.1:c.2+41888T>C | XP_024304731.1:n.2+41888T>C |