Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.168165501A>T , CM000666.2:g.168165501A>T | GRCh38 |
| NC_000004.11:g.169086652A>T , CM000666.1:g.169086652A>T | GRCh37 |
| NC_000004.10:g.169323227A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359299.8:c.480+175A>T MANE Select | ENSP00000352248.3:n.480+175A>T | |
| ENST00000359299.7:c.480+175A>T | ENSP00000352248.3:n.480+175A>T | |
| ENST00000503003.1:n.86+175A>T | ||
| ENST00000507278.5:n.143+175A>T | ||
| ENST00000617524.1:c.477+175A>T | ENSP00000483710.1:n.477+175A>T | |
| NM_007193.4:c.480+175A>T | NP_009124.2:n.480+175A>T | |
| XM_011531571.1:c.540+175A>T | XP_011529873.1:n.540+175A>T | |
| XM_011531571.2:c.540+175A>T | XP_011529873.1:n.540+175A>T | |
| NM_007193.5:c.480+175A>T MANE Select | NP_009124.2:n.480+175A>T |