Linked Data
ClinVar Variation Id:
911404
ClinVar RCV Id:
RCV001163848
dbSNP Id:
rs558290486
gnomAD v2:
8-38001093-G-T
gnomAD v3:
8-38143575-G-T
gnomAD v4:
8-38143575-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38143575G>T , CM000670.2:g.38143575G>T | GRCh38 |
| NC_000008.10:g.38001093G>T , CM000670.1:g.38001093G>T | GRCh37 |
| NC_000008.9:g.38120250G>T | NCBI36 |
| NG_011827.1:g.12508C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.*698C>A (STAR) MANE Select | ENSP00000276449.3:n.*698C>A | |
| ENST00000521808.5:c.276-164G>T (ASH2L) | ||
| NM_000349.2:c.*698C>A (STAR) | NP_000340.2:n.*698C>A | |
| NM_000349.3:c.*698C>A (STAR) MANE Select | NP_000340.2:n.*698C>A |