Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154192104C>T , CM000663.2:g.154192104C>T | GRCh38 |
| NC_000001.10:g.154164580C>T , CM000663.1:g.154164580C>T | GRCh37 |
| NC_000001.9:g.152431204C>T | NCBI36 |
| NG_008621.1:g.5030G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651644.1:c.-86G>A | ENSP00000498648.1:n.-86G>A | |
| ENST00000368530.6:c.-86G>A | ENSP00000357516.2:n.-86G>A | |
| ENST00000515609.1:c.-49-37G>A | ENSP00000426306.1:n.-49-37G>A | |
| NM_152263.3:c.-86G>A | NP_689476.2:n.-86G>A |