Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18671947A>T , CM000685.2:g.18671947A>T | GRCh38 |
| NC_000023.10:g.18690067A>T , CM000685.1:g.18690067A>T | GRCh37 |
| NC_000023.9:g.18599988A>T | NCBI36 |
| NG_008659.3:g.10502T>A , LRG_702:g.10502T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379984.4:c.52+70T>A MANE Select | ENSP00000369320.3:n.52+70T>A | |
| ENST00000379984.3:c.52+70T>A | ENSP00000369320.3:n.52+70T>A | |
| NM_000330.3:c.52+70T>A , LRG_702t1:c.52+70T>A | NP_000321.1:n.52+70T>A | |
| NM_000330.4:c.52+70T>A MANE Select | NP_000321.1:n.52+70T>A |