Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.13492870C>T , CM000673.2:g.13492870C>T | GRCh38 |
| NC_000011.9:g.13514417C>T , CM000673.1:g.13514417C>T | GRCh37 |
| NC_000011.8:g.13470993C>T | NCBI36 |
| NG_008962.1:g.8151G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000315.4:c.-5-10G>A MANE Select | NP_000306.1:n.-5-10G>A |
| ENST00000282091.6:c.-5-10G>A MANE Select | ENSP00000282091.1:n.-5-10G>A |
| NM_000315.2:c.-5-10G>A | NP_000306.1:n.-5-10G>A |
| NM_000315.3:c.-5-10G>A | NP_000306.1:n.-5-10G>A |
| NM_001316352.1:c.92-10G>A | NP_001303281.1:n.92-10G>A |
| NM_001316352.2:c.92-10G>A | NP_001303281.1:n.92-10G>A |
| ENST00000282091.5:c.-5-10G>A | ENSP00000282091.1:n.-5-10G>A |
| ENST00000529816.1:c.-5-10G>A | ENSP00000433208.1:n.-5-10G>A |