Linked Data
ClinVar Variation Id:
184121
dbSNP Id:
rs571803328
ExAC:
8:90958452 C / T
gnomAD v2:
8-90958452-C-T
gnomAD v3:
8-89946224-C-T
gnomAD v4:
8-89946224-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89946224C>T , CM000670.2:g.89946224C>T | GRCh38 |
| NC_000008.10:g.90958452C>T , CM000670.1:g.90958452C>T | GRCh37 |
| NC_000008.9:g.91027628C>T | NCBI36 |
| NG_008860.1:g.43448G>A , LRG_158:g.43448G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494804.2:n.3288G>A | ||
| ENST00000517337.2:c.1740G>A | ENSP00000429971.2:p.Leu580= | |
| ENST00000523444.2:c.1740G>A | ENSP00000428252.2:p.Leu580= | |
| ENST00000697292.1:c.1986G>A | ENSP00000513229.1:p.Leu662= | |
| ENST00000697293.1:c.1986G>A | ENSP00000513230.1:p.Leu662= | |
| ENST00000697294.1:c.*1597G>A | ENSP00000513231.1:n.*1597G>A | |
| ENST00000697295.1:c.*1295G>A | ENSP00000513232.1:n.*1295G>A | |
| ENST00000697296.1:c.*1654G>A | ENSP00000513233.1:n.*1654G>A | |
| ENST00000697297.1:n.3771G>A | ||
| ENST00000697298.1:c.1740G>A | ENSP00000513234.1:p.Leu580= | |
| ENST00000697299.1:c.1740G>A | ENSP00000513235.1:p.Leu580= | |
| ENST00000697300.1:c.*1590G>A | ENSP00000513236.1:n.*1590G>A | |
| ENST00000697301.1:c.*1507G>A | ENSP00000513237.1:n.*1507G>A | |
| ENST00000697302.1:c.*1507G>A | ENSP00000513238.1:n.*1507G>A | |
| ENST00000697303.1:c.*1590G>A | ENSP00000513239.1:n.*1590G>A | |
| ENST00000697304.1:c.1674G>A | ENSP00000513240.1:p.Leu558= | |
| ENST00000697306.1:c.*2537G>A | ENSP00000513241.1:n.*2537G>A | |
| ENST00000697307.1:c.1846-2858G>A | ENSP00000513242.1:n.1846-2858G>A | |
| ENST00000697308.1:c.1917G>A | ENSP00000513243.1:p.Leu639= | |
| ENST00000697309.1:c.1986G>A | ENSP00000513244.1:p.Leu662= | |
| ENST00000697310.1:c.1986G>A | ENSP00000513245.1:p.Leu662= | |
| ENST00000697311.1:c.1986G>A | ENSP00000513246.1:p.Leu662= | |
| ENST00000697312.1:c.*1384G>A | ENSP00000513247.1:n.*1384G>A | |
| ENST00000697313.1:n.2688-10612G>A | ||
| ENST00000697314.1:n.3636+7020G>A | ||
| ENST00000697315.1:c.1986G>A | ENSP00000513248.1:p.Leu662= | |
| ENST00000697316.1:n.2107G>A | ||
| ENST00000697317.1:n.2077G>A | ||
| ENST00000265433.8:c.1986G>A MANE Select | ENSP00000265433.4:p.Leu662= | |
| ENST00000265433.7:c.1986G>A | ENSP00000265433.3:p.Leu662= | |
| ENST00000396252.6:c.*1859G>A | ENSP00000379551.2:n.*1859G>A | |
| ENST00000409330.5:c.1740G>A | ENSP00000386924.1:p.Leu580= | |
| ENST00000520325.1:n.402G>A | ||
| ENST00000613033.1:c.180+1600G>A | ENSP00000484487.1:n.180+1600G>A | |
| NM_001024688.2:c.1740G>A | NP_001019859.1:p.Leu580= | |
| NM_002485.4:c.1986G>A , LRG_158t1:c.1986G>A | NP_002476.2:p.Leu662= | |
| XM_011517044.1:c.1962G>A | XP_011515346.1:p.Leu654= | |
| XM_011517045.1:c.1740G>A | XP_011515347.1:p.Leu580= | |
| XM_017013460.1:c.1107G>A | XP_016868949.1:p.Leu369= | |
| XM_017013462.2:c.1107G>A | XP_016868951.1:p.Leu369= | |
| XM_024447163.1:c.1740G>A | XP_024302931.1:p.Leu580= | |
| XM_024447164.1:c.1740G>A | XP_024302932.1:p.Leu580= | |
| XM_024447165.1:c.1107G>A | XP_024302933.1:p.Leu369= | |
| NM_002485.5:c.1986G>A MANE Select | NP_002476.2:p.Leu662= | |
| NM_001024688.3:c.1740G>A | NP_001019859.1:p.Leu580= |