Linked Data
ClinVar Variation Id:
1370380
ClinVar RCV Id:
RCV001870984
dbSNP Id:
rs748430309
ExAC:
1:154562289 G / A
gnomAD v2:
1-154562289-G-A
gnomAD v4:
1-154589813-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154589813G>A , CM000663.2:g.154589813G>A | GRCh38 |
| NC_000001.10:g.154562289G>A , CM000663.1:g.154562289G>A | GRCh37 |
| NC_000001.9:g.152828913G>A | NCBI36 |
| NG_011844.1:g.43149C>T | |
| NG_011844.2:g.46748C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649042.2:c.2506C>T | ENSP00000497790.2:n.2506C>T | |
| ENST00000649724.2:c.2642C>T | ENSP00000497932.2:p.Ala881Val | |
| ENST00000680270.2:c.2495C>T | ENSP00000505532.2:p.Ala832Val | |
| ENST00000681056.2:c.2264C>T | ENSP00000506234.2:p.Ala755Val | |
| ENST00000368471.8:c.1727C>T | ENSP00000357456.3:p.Ala576Val | |
| ENST00000368474.9:c.2612C>T MANE Select | ENSP00000357459.4:p.Ala871Val | |
| ENST00000529168.2:c.2534C>T | ENSP00000431794.2:p.Ala845Val | |
| ENST00000647682.2:n.2597C>T | ||
| ENST00000648231.2:c.1727C>T | ENSP00000497555.1:p.Ala576Val | |
| ENST00000648311.1:c.1727C>T | ENSP00000498137.1:p.Ala576Val | |
| ENST00000648714.2:c.*87C>T | ENSP00000497434.2:n.*87C>T | |
| ENST00000649021.1:n.2648C>T | ||
| ENST00000649022.2:c.1727C>T | ENSP00000496896.2:p.Ala576Val | |
| ENST00000649042.1:c.1727C>T | ENSP00000497790.1:p.Ala576Val | |
| ENST00000649408.2:c.2612C>T | ENSP00000497386.2:p.Ala871Val | |
| ENST00000649724.1:c.1727C>T | ENSP00000497932.1:p.Ala576Val | |
| ENST00000649749.1:c.1727C>T | ENSP00000497210.1:p.Ala576Val | |
| ENST00000679375.1:c.*844C>T | ENSP00000505887.1:n.*844C>T | |
| ENST00000679465.1:n.3065C>T | ||
| ENST00000679805.1:n.2648C>T | ||
| ENST00000679899.1:c.1670C>T | ENSP00000505996.1:p.Ala557Val | |
| ENST00000680270.1:c.1727C>T | ENSP00000505532.1:p.Ala576Val | |
| ENST00000680305.1:c.2612C>T | ENSP00000506312.1:p.Ala871Val | |
| ENST00000681056.1:c.1727C>T | ENSP00000506234.1:p.Ala576Val | |
| ENST00000681235.1:c.*2134C>T | ENSP00000506606.1:n.*2134C>T | |
| ENST00000681429.1:n.1872C>T | ||
| ENST00000681683.1:c.1727C>T | ENSP00000506666.1:p.Ala576Val | |
| ENST00000681786.1:n.3065C>T | ||
| ENST00000681901.1:c.*2212C>T | ENSP00000504883.1:n.*2212C>T | |
| ENST00000368471.7:c.1727C>T | ENSP00000357456.3:p.Ala576Val | |
| ENST00000368474.8:c.2612C>T | ENSP00000357459.4:p.Ala871Val | |
| ENST00000529168.1:c.2519C>T | ENSP00000431794.1:p.Ala840Val | |
| NM_001025107.2:c.1727C>T | NP_001020278.1:p.Ala576Val | |
| NM_001111.4:c.2612C>T | NP_001102.2:p.Ala871Val | |
| NM_001193495.1:c.1727C>T | NP_001180424.1:p.Ala576Val | |
| NM_015840.3:c.2534C>T | NP_056655.2:p.Ala845Val | |
| NM_015841.3:c.2477C>T | NP_056656.2:p.Ala826Val | |
| XM_006711109.1:c.2642C>T | XP_006711172.1:p.Ala881Val | |
| XM_006711111.2:c.1727C>T | XP_006711174.1:p.Ala576Val | |
| XM_006711112.1:c.1727C>T | XP_006711175.1:p.Ala576Val | |
| XM_006711113.1:c.1727C>T | XP_006711176.1:p.Ala576Val | |
| XM_011509060.1:c.2741C>T | XP_011507362.1:p.Ala914Val | |
| XM_011509061.1:c.2663C>T | XP_011507363.1:p.Ala888Val | |
| XM_011509062.1:c.2630C>T | XP_011507364.1:p.Ala877Val | |
| NM_001025107.3:c.1727C>T | NP_001020278.1:p.Ala576Val | |
| NM_001111.5:c.2612C>T MANE Select | NP_001102.3:p.Ala871Val | |
| NM_001193495.2:c.1727C>T | NP_001180424.1:p.Ala576Val | |
| NM_001365045.1:c.2639C>T | NP_001351974.1:p.Ala880Val | |
| NM_001365046.1:c.1727C>T | NP_001351975.1:p.Ala576Val | |
| NM_001365047.1:c.1727C>T | NP_001351976.1:p.Ala576Val | |
| NM_001365048.1:c.1727C>T | NP_001351977.1:p.Ala576Val | |
| NM_001365049.1:c.1649C>T | NP_001351978.1:p.Ala550Val | |
| NM_015840.4:c.2534C>T | NP_056655.3:p.Ala845Val | |
| NM_015841.4:c.2477C>T | NP_056656.3:p.Ala826Val | |
| XM_006711113.2:c.1727C>T | XP_006711176.1:p.Ala576Val | |
| XM_011509061.2:c.1649C>T | XP_011507363.2:p.Ala550Val | |
| XM_024449674.1:c.2741C>T | XP_024305442.1:p.Ala914Val |