Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31660040G>A , CM000683.2:g.31660040G>A | GRCh38 |
| NC_000021.8:g.33032353G>A , CM000683.1:g.33032353G>A | GRCh37 |
| NC_000021.7:g.31954224G>A | NCBI36 |
| NG_008689.1:g.5419G>A , LRG_652:g.5419G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.72+199G>A MANE Select | ENSP00000270142.7:n.72+199G>A | |
| ENST00000270142.10:c.72+199G>A | ENSP00000270142.6:n.72+199G>A | |
| ENST00000389995.4:c.15+256G>A | ENSP00000374645.4:n.15+256G>A | |
| ENST00000470944.1:n.332G>A | ||
| ENST00000476106.5:n.149+199G>A | ||
| NM_000454.4:c.72+199G>A , LRG_652t1:c.72+199G>A | NP_000445.1:n.72+199G>A | |
| NM_000454.5:c.72+199G>A MANE Select | NP_000445.1:n.72+199G>A |