Linked Data
ClinVar Variation Id:
1370386
ClinVar RCV Id:
RCV001877138
dbSNP Id:
rs894189734
gnomAD v4:
8-89937033-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89937033G>T , CM000670.2:g.89937033G>T | GRCh38 |
| NC_000008.10:g.90949261G>T , CM000670.1:g.90949261G>T | GRCh37 |
| NC_000008.9:g.91018437G>T | NCBI36 |
| NG_008860.1:g.52639C>A , LRG_158:g.52639C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474821.2:n.3647C>A | ||
| ENST00000494804.2:n.3529C>A | ||
| ENST00000517337.2:c.1981C>A | ENSP00000429971.2:p.Leu661Ile | |
| ENST00000523444.2:c.1981C>A | ENSP00000428252.2:p.Leu661Ile | |
| ENST00000697292.1:c.2227C>A | ENSP00000513229.1:p.Leu743Ile | |
| ENST00000697293.1:c.2278C>A | ENSP00000513230.1:p.Leu760Ile | |
| ENST00000697294.1:c.*1838C>A | ENSP00000513231.1:n.*1838C>A | |
| ENST00000697295.1:c.*1536C>A | ENSP00000513232.1:n.*1536C>A | |
| ENST00000697296.1:c.*1895C>A | ENSP00000513233.1:n.*1895C>A | |
| ENST00000697297.1:n.4012C>A | ||
| ENST00000697298.1:c.1981C>A | ENSP00000513234.1:p.Leu661Ile | |
| ENST00000697299.1:c.1981C>A | ENSP00000513235.1:p.Leu661Ile | |
| ENST00000697300.1:c.*1831C>A | ENSP00000513236.1:n.*1831C>A | |
| ENST00000697301.1:c.*1748C>A | ENSP00000513237.1:n.*1748C>A | |
| ENST00000697302.1:c.*1748C>A | ENSP00000513238.1:n.*1748C>A | |
| ENST00000697303.1:c.*1831C>A | ENSP00000513239.1:n.*1831C>A | |
| ENST00000697304.1:c.1915C>A | ENSP00000513240.1:p.Leu639Ile | |
| ENST00000697305.1:n.2494C>A | ||
| ENST00000697306.1:c.*2778C>A | ENSP00000513241.1:n.*2778C>A | |
| ENST00000697307.1:c.2002C>A | ENSP00000513242.1:p.Leu668Ile | |
| ENST00000697308.1:c.2158C>A | ENSP00000513243.1:p.Leu720Ile | |
| ENST00000697309.1:c.2185-1421C>A | ENSP00000513244.1:n.2185-1421C>A | |
| ENST00000697310.1:c.2227C>A | ENSP00000513245.1:p.Leu743Ile | |
| ENST00000697311.1:c.*492C>A | ENSP00000513246.1:n.*492C>A | |
| ENST00000697312.1:c.*1680C>A | ENSP00000513247.1:n.*1680C>A | |
| ENST00000697313.1:n.2688-1421C>A | ||
| ENST00000697314.1:n.3637-1421C>A | ||
| ENST00000697315.1:c.*131C>A | ENSP00000513248.1:n.*131C>A | |
| ENST00000697316.1:n.2348C>A | ||
| ENST00000265433.8:c.2227C>A MANE Select | ENSP00000265433.4:p.Leu743Ile | |
| ENST00000265433.7:c.2227C>A | ENSP00000265433.3:p.Leu743Ile | |
| ENST00000396252.6:c.*2100C>A | ENSP00000379551.2:n.*2100C>A | |
| ENST00000409330.5:c.1981C>A | ENSP00000386924.1:p.Leu661Ile | |
| ENST00000474821.1:n.315C>A | ||
| ENST00000613033.1:c.337C>A | ENSP00000484487.1:p.Leu113Ile | |
| NM_001024688.2:c.1981C>A | NP_001019859.1:p.Leu661Ile | |
| NM_002485.4:c.2227C>A , LRG_158t1:c.2227C>A | NP_002476.2:p.Leu743Ile | |
| XM_011517044.1:c.2203C>A | XP_011515346.1:p.Leu735Ile | |
| XM_011517045.1:c.1981C>A | XP_011515347.1:p.Leu661Ile | |
| XM_017013460.1:c.1348C>A | XP_016868949.1:p.Leu450Ile | |
| XM_017013462.2:c.1348C>A | XP_016868951.1:p.Leu450Ile | |
| XM_024447163.1:c.1981C>A | XP_024302931.1:p.Leu661Ile | |
| XM_024447164.1:c.1981C>A | XP_024302932.1:p.Leu661Ile | |
| XM_024447165.1:c.1348C>A | XP_024302933.1:p.Leu450Ile | |
| NM_002485.5:c.2227C>A MANE Select | NP_002476.2:p.Leu743Ile | |
| NM_001024688.3:c.1981C>A | NP_001019859.1:p.Leu661Ile |