Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.58238165G>T , CM000672.2:g.58238165G>T | GRCh38 |
| NC_000010.10:g.59997926G>T , CM000672.1:g.59997926G>T | GRCh37 |
| NC_000010.9:g.59667932G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373935.4:c.191-351C>A MANE Select | ENSP00000363046.3:n.191-351C>A | |
| ENST00000373935.3:c.191-351C>A | ENSP00000363046.3:n.191-351C>A | |
| NM_152230.4:c.191-351C>A | NP_689416.1:n.191-351C>A | |
| XM_011539565.1:c.191-351C>A | XP_011537867.1:n.191-351C>A | |
| XM_011539565.3:c.191-351C>A | XP_011537867.1:n.191-351C>A | |
| XM_017016013.2:c.-83-351C>A | XP_016871502.1:n.-83-351C>A | |
| NM_152230.5:c.191-351C>A MANE Select | NP_689416.1:n.191-351C>A |