Linked Data
dbSNP Id:
rs1810174298
gnomAD v3:
8-89946146-G-A
gnomAD v4:
8-89946146-G-A
MyVariant Identifiers:
chr8:g.90958374G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89946146G>A , CM000670.2:g.89946146G>A | GRCh38 |
| NC_000008.10:g.90958374G>A , CM000670.1:g.90958374G>A | GRCh37 |
| NC_000008.9:g.91027550G>A | NCBI36 |
| NG_008860.1:g.43526C>T , LRG_158:g.43526C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000494804.2:n.3366C>T | ||
| ENST00000517337.2:c.1818C>T | ENSP00000429971.2:p.Phe606= | |
| ENST00000523444.2:c.1818C>T | ENSP00000428252.2:p.Phe606= | |
| ENST00000697292.1:c.2064C>T | ENSP00000513229.1:p.Phe688= | |
| ENST00000697293.1:c.2064C>T | ENSP00000513230.1:p.Phe688= | |
| ENST00000697294.1:c.*1675C>T | ENSP00000513231.1:n.*1675C>T | |
| ENST00000697295.1:c.*1373C>T | ENSP00000513232.1:n.*1373C>T | |
| ENST00000697296.1:c.*1732C>T | ENSP00000513233.1:n.*1732C>T | |
| ENST00000697297.1:n.3849C>T | ||
| ENST00000697298.1:c.1818C>T | ENSP00000513234.1:p.Phe606= | |
| ENST00000697299.1:c.1818C>T | ENSP00000513235.1:p.Phe606= | |
| ENST00000697300.1:c.*1668C>T | ENSP00000513236.1:n.*1668C>T | |
| ENST00000697301.1:c.*1585C>T | ENSP00000513237.1:n.*1585C>T | |
| ENST00000697302.1:c.*1585C>T | ENSP00000513238.1:n.*1585C>T | |
| ENST00000697303.1:c.*1668C>T | ENSP00000513239.1:n.*1668C>T | |
| ENST00000697304.1:c.1752C>T | ENSP00000513240.1:p.Phe584= | |
| ENST00000697306.1:c.*2615C>T | ENSP00000513241.1:n.*2615C>T | |
| ENST00000697307.1:c.1846-2780C>T | ENSP00000513242.1:n.1846-2780C>T | |
| ENST00000697308.1:c.1995C>T | ENSP00000513243.1:p.Phe665= | |
| ENST00000697309.1:c.2064C>T | ENSP00000513244.1:p.Phe688= | |
| ENST00000697310.1:c.2064C>T | ENSP00000513245.1:p.Phe688= | |
| ENST00000697311.1:c.2064C>T | ENSP00000513246.1:p.Phe688= | |
| ENST00000697312.1:c.*1462C>T | ENSP00000513247.1:n.*1462C>T | |
| ENST00000697313.1:n.2688-10534C>T | ||
| ENST00000697314.1:n.3636+7098C>T | ||
| ENST00000697315.1:c.2064C>T | ENSP00000513248.1:p.Phe688= | |
| ENST00000697316.1:n.2185C>T | ||
| ENST00000697317.1:n.2155C>T | ||
| ENST00000265433.8:c.2064C>T MANE Select | ENSP00000265433.4:p.Phe688= | |
| ENST00000265433.7:c.2064C>T | ENSP00000265433.3:p.Phe688= | |
| ENST00000396252.6:c.*1937C>T | ENSP00000379551.2:n.*1937C>T | |
| ENST00000409330.5:c.1818C>T | ENSP00000386924.1:p.Phe606= | |
| ENST00000520325.1:n.480C>T | ||
| ENST00000613033.1:c.180+1678C>T | ENSP00000484487.1:n.180+1678C>T | |
| NM_001024688.2:c.1818C>T | NP_001019859.1:p.Phe606= | |
| NM_002485.4:c.2064C>T , LRG_158t1:c.2064C>T | NP_002476.2:p.Phe688= | |
| XM_011517044.1:c.2040C>T | XP_011515346.1:p.Phe680= | |
| XM_011517045.1:c.1818C>T | XP_011515347.1:p.Phe606= | |
| XM_017013460.1:c.1185C>T | XP_016868949.1:p.Phe395= | |
| XM_017013462.2:c.1185C>T | XP_016868951.1:p.Phe395= | |
| XM_024447163.1:c.1818C>T | XP_024302931.1:p.Phe606= | |
| XM_024447164.1:c.1818C>T | XP_024302932.1:p.Phe606= | |
| XM_024447165.1:c.1185C>T | XP_024302933.1:p.Phe395= | |
| NM_002485.5:c.2064C>T MANE Select | NP_002476.2:p.Phe688= | |
| NM_001024688.3:c.1818C>T | NP_001019859.1:p.Phe606= |