Linked Data
ClinVar Variation Id:
370889
ClinVar RCV Id:
RCV000410070
dbSNP Id:
rs1057516846
gnomAD v3:
5-177994340-T-C
gnomAD v4:
5-177994340-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177994340T>C , CM000667.2:g.177994340T>C | GRCh38 |
| NC_000005.9:g.177421341T>C , CM000667.1:g.177421341T>C | GRCh37 |
| NC_000005.8:g.177353947T>C | NCBI36 |
| NG_015889.1:g.6903A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000308304.2:c.110-2A>G MANE Select | ENSP00000311290.2:n.110-2A>G | |
| NM_006261.4:c.110-2A>G | NP_006252.3:n.110-2A>G | |
| NM_006261.5:c.110-2A>G MANE Select | NP_006252.4:n.110-2A>G |