Linked Data
ClinVar Variation Id:
446148
dbSNP Id:
rs775080726
ExAC:
5:122720762 G / A
gnomAD v2:
5-122720762-G-A
gnomAD v3:
5-123385068-G-A
gnomAD v4:
5-123385068-G-A
COSMIC:
COSM6422863
PubMed:
PMID:27208211
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.123385068G>A , CM000667.2:g.123385068G>A | GRCh38 |
| NC_000005.9:g.122720762G>A , CM000667.1:g.122720762G>A | GRCh37 |
| NC_000005.8:g.122748661G>A | NCBI36 |
| NG_042125.1:g.43525C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306467.10:c.1646C>T MANE Select | ENSP00000303058.6:p.Ala549Val | |
| ENST00000306481.11:c.1568C>T | ENSP00000307419.6:p.Ala523Val | |
| ENST00000328236.10:c.1646C>T | ENSP00000327504.5:p.Ala549Val | |
| ENST00000503049.2:n.1701C>T | ||
| ENST00000508442.7:c.1568C>T | ENSP00000421620.3:p.Ala523Val | |
| ENST00000674620.1:c.*997C>T | ENSP00000501651.1:n.*997C>T | |
| ENST00000674667.1:c.*307C>T | ENSP00000502819.1:n.*307C>T | |
| ENST00000674684.1:c.1646C>T | ENSP00000501697.1:p.Ala549Val | |
| ENST00000675003.1:n.2144C>T | ||
| ENST00000675104.1:c.*307C>T | ENSP00000502078.1:n.*307C>T | |
| ENST00000675283.1:n.1481C>T | ||
| ENST00000675330.1:c.1511C>T | ENSP00000502634.1:p.Ala504Val | |
| ENST00000675442.1:c.1568C>T | ENSP00000502221.1:p.Ala523Val | |
| ENST00000675444.1:n.2069C>T | ||
| ENST00000675686.1:c.*1542C>T | ENSP00000501801.1:n.*1542C>T | |
| ENST00000675814.1:c.*1199C>T | ENSP00000502121.1:n.*1199C>T | |
| ENST00000675852.1:n.3517C>T | ||
| ENST00000306467.9:c.1646C>T | ENSP00000303058.5:p.Ala549Val | |
| ENST00000306481.10:c.1568C>T | ENSP00000307419.6:p.Ala523Val | |
| ENST00000328236.9:c.1646C>T | ENSP00000327504.5:p.Ala549Val | |
| ENST00000508138.5:c.*1218C>T | ENSP00000422234.1:n.*1218C>T | |
| ENST00000508442.6:c.1568C>T | ENSP00000421620.2:p.Ala523Val | |
| ENST00000513565.6:c.*856C>T | ENSP00000422089.2:n.*856C>T | |
| NM_001166226.1:c.1568C>T | NP_001159698.1:p.Ala523Val | |
| NM_153223.3:c.1646C>T | NP_694955.2:p.Ala549Val | |
| XM_005271901.3:c.1511C>T | XP_005271958.1:p.Ala504Val | |
| XM_011543185.1:c.1568C>T | XP_011541487.1:p.Ala523Val | |
| XM_011543186.1:c.179C>T | XP_011541488.1:p.Ala60Val | |
| XM_005271901.5:c.1511C>T | XP_005271958.1:p.Ala504Val | |
| XM_011543185.2:c.1568C>T | XP_011541487.1:p.Ala523Val | |
| XM_011543186.2:c.179C>T | XP_011541488.1:p.Ala60Val | |
| XM_017009085.1:c.179C>T | XP_016864574.1:p.Ala60Val | |
| XM_024454370.1:c.1646C>T | XP_024310138.1:p.Ala549Val | |
| NM_001375405.1:c.1646C>T MANE Select | NP_001362334.1:p.Ala549Val | |
| NM_001375406.1:c.1511C>T | NP_001362335.1:p.Ala504Val | |
| NM_001375407.1:c.1646C>T | NP_001362336.1:p.Ala549Val | |
| NM_001375408.1:c.1073C>T | NP_001362337.1:p.Ala358Val | |
| NM_001375409.1:c.1073C>T | NP_001362338.1:p.Ala358Val | |
| NR_164685.1:n.2404C>T | ||
| NM_001166226.2:c.1568C>T | NP_001159698.1:p.Ala523Val | |
| NM_153223.4:c.1646C>T | NP_694955.2:p.Ala549Val |