Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114043962T>C , CM000672.2:g.114043962T>C | GRCh38 |
| NC_000010.10:g.115803721T>C , CM000672.1:g.115803721T>C | GRCh37 |
| NC_000010.9:g.115793711T>C | NCBI36 |
| NG_012187.1:g.4916T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.-171T>C MANE Select | ENSP00000358301.2:n.-171T>C | |
| NM_000684.3:c.-171T>C MANE Select | NP_000675.1:n.-171T>C |