Linked Data
ClinVar Variation Id:
2737888
ClinVar RCV Id:
RCV003562455
dbSNP Id:
rs781223542
ExAC:
5:177420059 G / A
gnomAD v2:
5-177420059-G-A
gnomAD v3:
5-177993058-G-A
gnomAD v4:
5-177993058-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177993058G>A , CM000667.2:g.177993058G>A | GRCh38 |
| NC_000005.9:g.177420059G>A , CM000667.1:g.177420059G>A | GRCh37 |
| NC_000005.8:g.177352665G>A | NCBI36 |
| NG_015889.1:g.8185C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308304.2:c.343-11C>T MANE Select | ENSP00000311290.2:n.343-11C>T | |
| NM_006261.4:c.343-11C>T | NP_006252.3:n.343-11C>T | |
| NM_006261.5:c.343-11C>T MANE Select | NP_006252.4:n.343-11C>T |