Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.124451468C>T , CM000670.2:g.124451468C>T | GRCh38 |
| NC_000008.10:g.125463709C>T , CM000670.1:g.125463709C>T | GRCh37 |
| NC_000008.9:g.125532890C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017956.4:c.541C>T MANE Select | NP_060426.2:p.Pro181Ser |
| ENST00000328599.4:c.541C>T MANE Select | ENSP00000329858.3:p.Pro181Ser |
| NM_017956.3:c.541C>T | NP_060426.2:p.Pro181Ser |
| ENST00000521443.1:n.438+211C>T | |
| ENST00000522518.1:c.330+211C>T | ENSP00000429771.1:n.330+211C>T |