Linked Data
ClinVar Variation Id:
2723317
ClinVar RCV Id:
RCV003511124
dbSNP Id:
rs767881416
ExAC:
8:15480609 A / C
gnomAD v2:
8-15480609-A-C
gnomAD v3:
8-15623100-A-C
gnomAD v4:
8-15623100-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.15623100A>C , CM000670.2:g.15623100A>C | GRCh38 |
| NC_000008.10:g.15480609A>C , CM000670.1:g.15480609A>C | GRCh37 |
| NC_000008.9:g.15524980A>C | NCBI36 |
| NG_012141.2:g.87880A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503731.6:c.159A>C MANE Select | ENSP00000424544.1:p.Val53= | |
| ENST00000382020.8:c.159A>C | ENSP00000371450.4:p.Val53= | |
| ENST00000503191.5:n.210A>C | ||
| ENST00000503731.5:c.159A>C | ENSP00000424544.1:p.Val53= | |
| ENST00000506802.5:c.159A>C | ENSP00000425777.1:p.Val53= | |
| ENST00000507400.1:n.88A>C | ||
| ENST00000509177.1:n.23A>C | ||
| ENST00000509380.5:c.159A>C | ENSP00000423426.1:p.Val53= | |
| ENST00000510836.5:c.159A>C | ENSP00000426973.1:p.Val53= | |
| ENST00000511783.2:c.21A>C | ENSP00000426880.2:p.Val7= | |
| ENST00000515859.5:c.159A>C | ENSP00000420829.1:p.Val53= | |
| NM_006765.3:c.159A>C | NP_006756.2:p.Val53= | |
| NM_178234.2:c.159A>C | NP_839952.1:p.Val53= | |
| XM_011544651.1:c.-10A>C | XP_011542953.1:n.-10A>C | |
| XM_011544652.1:c.-10A>C | XP_011542954.1:n.-10A>C | |
| XM_011544653.1:c.-10A>C | XP_011542955.1:n.-10A>C | |
| XM_011544654.1:c.-10A>C | XP_011542956.1:n.-10A>C | |
| NM_001356429.1:c.159A>C | NP_001343358.1:p.Val53= | |
| XM_011544651.3:c.-10A>C | XP_011542953.1:n.-10A>C | |
| XM_017013861.2:c.-10A>C | XP_016869350.1:n.-10A>C | |
| NM_001356429.2:c.159A>C | NP_001343358.1:p.Val53= | |
| NM_006765.4:c.159A>C MANE Select | NP_006756.2:p.Val53= |