Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151187273G>T , CM000669.2:g.151187273G>T | GRCh38 |
| NC_000007.13:g.150884360G>T , CM000669.1:g.150884360G>T | GRCh37 |
| NC_000007.12:g.150515293G>T | NCBI36 |
| NG_017016.1:g.5560C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000275838.5:c.-143C>A | ENSP00000275838.1:n.-143C>A | |
| ENST00000377867.7:c.271+179C>A | ENSP00000367098.3:n.271+179C>A | |
| ENST00000415615.1:c.*102C>A | ENSP00000410871.1:n.*102C>A | |
| NM_001142459.1:c.-143C>A | NP_001135931.2:n.-143C>A | |
| NM_001142460.1:c.-143C>A | NP_001135932.2:n.-143C>A | |
| NM_080871.3:c.271+179C>A | NP_543147.2:n.271+179C>A | |
| NM_080871.4:c.271+179C>A | NP_543147.2:n.271+179C>A |