Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.38687479G>T , CM000675.2:g.38687479G>T | GRCh38 |
| NC_000013.10:g.39261616G>T , CM000675.1:g.39261616G>T | GRCh37 |
| NC_000013.9:g.38159616G>T | NCBI36 |
| NG_008125.2:g.5444G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_207361.6:c.135G>T MANE Select | NP_997244.4:p.Pro45= |
| ENST00000280481.9:c.135G>T MANE Select | ENSP00000280481.7:p.Pro45= |
| NM_207361.5:c.135G>T | NP_997244.4:p.Pro45= |
| ENST00000280481.8:c.135G>T | ENSP00000280481.7:p.Pro45= |
| XM_011535057.1:c.135G>T | XP_011533359.1:p.Pro45= |
| XM_017020554.1:c.135G>T | XP_016876043.1:p.Pro45= |
| XR_941571.1:n.443G>T | |
| XR_941571.2:n.439G>T |