Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68426648C>T , CM000677.2:g.68426648C>T | GRCh38 |
| NC_000015.9:g.68718987C>T , CM000677.1:g.68718987C>T | GRCh37 |
| NC_000015.8:g.66506041C>T | NCBI36 |
| NG_046911.1:g.10513G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001004439.2:c.52+5367G>A MANE Select | NP_001004439.1:n.52+5367G>A |
| ENST00000315757.9:c.52+5367G>A MANE Select | ENSP00000327290.7:n.52+5367G>A |
| NM_001004439.1:c.52+5367G>A | NP_001004439.1:n.52+5367G>A |
| ENST00000315757.8:c.52+5367G>A | ENSP00000327290.7:n.52+5367G>A |
| ENST00000423218.6:c.52+5367G>A | ENSP00000403392.2:n.52+5367G>A |
| XM_011521363.1:c.52+5367G>A | XP_011519665.1:n.52+5367G>A |
| XM_011521363.2:c.52+5367G>A | XP_011519665.1:n.52+5367G>A |