Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46399368T>C , CM000663.2:g.46399368T>C | GRCh38 |
| NC_000001.10:g.46865040T>C , CM000663.1:g.46865040T>C | GRCh37 |
| NC_000001.9:g.46637627T>C | NCBI36 |
| NG_012195.1:g.10102T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001441.3:c.196-2723T>C MANE Select | NP_001432.2:n.196-2723T>C |
| ENST00000243167.9:c.196-2723T>C MANE Select | ENSP00000243167.8:n.196-2723T>C |
| NM_001441.2:c.196-2723T>C | NP_001432.2:n.196-2723T>C |
| ENST00000243167.8:c.196-2723T>C | ENSP00000243167.8:n.196-2723T>C |
| ENST00000468718.5:n.216-2723T>C | |
| ENST00000493735.5:n.174-2723T>C |