Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151187270C>A , CM000669.2:g.151187270C>A | GRCh38 |
| NC_000007.13:g.150884357C>A , CM000669.1:g.150884357C>A | GRCh37 |
| NC_000007.12:g.150515290C>A | NCBI36 |
| NG_017016.1:g.5563G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000275838.5:c.-140G>T | ENSP00000275838.1:n.-140G>T | |
| ENST00000377867.7:c.271+182G>T | ENSP00000367098.3:n.271+182G>T | |
| ENST00000415615.1:c.*105G>T | ENSP00000410871.1:n.*105G>T | |
| NM_001142459.1:c.-140G>T | NP_001135931.2:n.-140G>T | |
| NM_001142460.1:c.-140G>T | NP_001135932.2:n.-140G>T | |
| NM_080871.3:c.271+182G>T | NP_543147.2:n.271+182G>T | |
| NM_080871.4:c.271+182G>T | NP_543147.2:n.271+182G>T |