Linked Data
ClinVar Variation Id:
416884
ClinVar RCV Id:
RCV000468060
dbSNP Id:
rs1060504927
gnomAD v4:
8-89947878-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89947878A>G , CM000670.2:g.89947878A>G | GRCh38 |
| NC_000008.10:g.90960106A>G , CM000670.1:g.90960106A>G | GRCh37 |
| NC_000008.9:g.91029282A>G | NCBI36 |
| NG_008860.1:g.41794T>C , LRG_158:g.41794T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494804.2:n.3162T>C | ||
| ENST00000517337.2:c.1614T>C | ENSP00000429971.2:p.Ile538= | |
| ENST00000523444.2:c.1614T>C | ENSP00000428252.2:p.Ile538= | |
| ENST00000697292.1:c.1860T>C | ENSP00000513229.1:p.Ile620= | |
| ENST00000697293.1:c.1860T>C | ENSP00000513230.1:p.Ile620= | |
| ENST00000697294.1:c.*1471T>C | ENSP00000513231.1:n.*1471T>C | |
| ENST00000697295.1:c.*1169T>C | ENSP00000513232.1:n.*1169T>C | |
| ENST00000697296.1:c.*1528T>C | ENSP00000513233.1:n.*1528T>C | |
| ENST00000697297.1:n.3645T>C | ||
| ENST00000697298.1:c.1614T>C | ENSP00000513234.1:p.Ile538= | |
| ENST00000697299.1:c.1614T>C | ENSP00000513235.1:p.Ile538= | |
| ENST00000697300.1:c.*1464T>C | ENSP00000513236.1:n.*1464T>C | |
| ENST00000697301.1:c.*1381T>C | ENSP00000513237.1:n.*1381T>C | |
| ENST00000697302.1:c.*1381T>C | ENSP00000513238.1:n.*1381T>C | |
| ENST00000697303.1:c.*1464T>C | ENSP00000513239.1:n.*1464T>C | |
| ENST00000697304.1:c.1548T>C | ENSP00000513240.1:p.Ile516= | |
| ENST00000697306.1:c.*883T>C | ENSP00000513241.1:n.*883T>C | |
| ENST00000697307.1:c.1846-4512T>C | ENSP00000513242.1:n.1846-4512T>C | |
| ENST00000697308.1:c.1846-1583T>C | ENSP00000513243.1:n.1846-1583T>C | |
| ENST00000697309.1:c.1860T>C | ENSP00000513244.1:p.Ile620= | |
| ENST00000697310.1:c.1860T>C | ENSP00000513245.1:p.Ile620= | |
| ENST00000697311.1:c.1860T>C | ENSP00000513246.1:p.Ile620= | |
| ENST00000697312.1:c.*1258T>C | ENSP00000513247.1:n.*1258T>C | |
| ENST00000697313.1:n.2688-12266T>C | ||
| ENST00000697314.1:n.3636+5366T>C | ||
| ENST00000697315.1:c.1860T>C | ENSP00000513248.1:p.Ile620= | |
| ENST00000697316.1:n.1981T>C | ||
| ENST00000697317.1:n.1970T>C | ||
| ENST00000265433.8:c.1860T>C MANE Select | ENSP00000265433.4:p.Ile620= | |
| ENST00000265433.7:c.1860T>C | ENSP00000265433.3:p.Ile620= | |
| ENST00000396252.6:c.*1733T>C | ENSP00000379551.2:n.*1733T>C | |
| ENST00000409330.5:c.1614T>C | ENSP00000386924.1:p.Ile538= | |
| ENST00000613033.1:c.126T>C | ENSP00000484487.1:p.Ile42= | |
| NM_001024688.2:c.1614T>C | NP_001019859.1:p.Ile538= | |
| NM_002485.4:c.1860T>C , LRG_158t1:c.1860T>C | NP_002476.2:p.Ile620= | |
| XM_011517044.1:c.1836T>C | XP_011515346.1:p.Ile612= | |
| XM_011517045.1:c.1614T>C | XP_011515347.1:p.Ile538= | |
| XR_928335.1:n.1999T>C | ||
| XM_017013460.1:c.981T>C | XP_016868949.1:p.Ile327= | |
| XM_017013462.2:c.981T>C | XP_016868951.1:p.Ile327= | |
| XM_024447163.1:c.1614T>C | XP_024302931.1:p.Ile538= | |
| XM_024447164.1:c.1614T>C | XP_024302932.1:p.Ile538= | |
| XM_024447165.1:c.981T>C | XP_024302933.1:p.Ile327= | |
| NM_002485.5:c.1860T>C MANE Select | NP_002476.2:p.Ile620= | |
| NM_001024688.3:c.1614T>C | NP_001019859.1:p.Ile538= |