Linked Data
ClinVar Variation Id:
2031366
ClinVar RCV Id:
RCV002867156
gnomAD v4:
5-177992931-G-A
MyVariant Identifiers:
chr5:g.177419932G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177992931G>A , CM000667.2:g.177992931G>A | GRCh38 |
| NC_000005.9:g.177419932G>A , CM000667.1:g.177419932G>A | GRCh37 |
| NC_000005.8:g.177352538G>A | NCBI36 |
| NG_015889.1:g.8312C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308304.2:c.459C>T MANE Select | ENSP00000311290.2:p.Cys153= | |
| NM_006261.4:c.459C>T | NP_006252.3:p.Cys153= | |
| NM_006261.5:c.459C>T MANE Select | NP_006252.4:p.Cys153= |