Linked Data
ClinVar Variation Id:
518415
dbSNP Id:
rs1255903649
gnomAD v2:
X-153001835-G-A
gnomAD v3:
X-153736381-G-A
gnomAD v4:
X-153736381-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153736381G>A , CM000685.2:g.153736381G>A | GRCh38 |
| NC_000023.10:g.153001835G>A , CM000685.1:g.153001835G>A | GRCh37 |
| NC_000023.9:g.152655029G>A | NCBI36 |
| NG_009022.2:g.16514G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1261G>A MANE Select | ENSP00000218104.3:p.Glu421Lys | |
| ENST00000218104.5:c.1261G>A | ENSP00000218104.3:p.Glu421Lys | |
| ENST00000443684.2:n.264G>A | ||
| NM_000033.3:c.1261G>A | NP_000024.2:p.Glu421Lys | |
| XR_938507.1:n.1677G>A | ||
| XR_938507.2:n.1677G>A | ||
| NM_000033.4:c.1261G>A MANE Select | NP_000024.2:p.Glu421Lys |