Linked Data
ClinVar Variation Id:
761074
ClinVar RCV Id:
RCV000939083
dbSNP Id:
rs764924616
ExAC:
4:178363503 C / A
gnomAD v2:
4-178363503-C-A
gnomAD v3:
4-177442349-C-A
gnomAD v4:
4-177442349-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177442349C>A , CM000666.2:g.177442349C>A | GRCh38 |
| NC_000004.11:g.178363503C>A , CM000666.1:g.178363503C>A | GRCh37 |
| NC_000004.10:g.178600497C>A | NCBI36 |
| NG_011845.2:g.5155G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.27G>T MANE Select | ENSP00000264595.2:p.Val9= | |
| ENST00000264595.6:c.27G>T | ENSP00000264595.2:p.Val9= | |
| ENST00000506853.5:n.61G>T | ||
| ENST00000510955.5:n.61G>T | ||
| ENST00000511231.1:n.61G>T | ||
| NM_000027.3:c.27G>T | NP_000018.2:p.Val9= | |
| NM_001171988.1:c.27G>T | NP_001165459.1:p.Val9= | |
| NR_033655.1:n.155G>T | ||
| XM_006714123.2:c.27G>T | XP_006714186.1:p.Val9= | |
| XR_001741155.2:n.121G>T | ||
| NM_000027.4:c.27G>T MANE Select | NP_000018.2:p.Val9= | |
| NM_001171988.2:c.27G>T | NP_001165459.1:p.Val9= | |
| NR_033655.2:n.89G>T |