Linked Data
ClinVar Variation Id:
1390000
ClinVar RCV Id:
RCV001889436
dbSNP Id:
rs1554556461
gnomAD v4:
8-89946145-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89946145T>C , CM000670.2:g.89946145T>C | GRCh38 |
| NC_000008.10:g.90958373T>C , CM000670.1:g.90958373T>C | GRCh37 |
| NC_000008.9:g.91027549T>C | NCBI36 |
| NG_008860.1:g.43527A>G , LRG_158:g.43527A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000494804.2:n.3367A>G | ||
| ENST00000517337.2:c.1819A>G | ENSP00000429971.2:p.Lys607Glu | |
| ENST00000523444.2:c.1819A>G | ENSP00000428252.2:p.Lys607Glu | |
| ENST00000697292.1:c.2065A>G | ENSP00000513229.1:p.Lys689Glu | |
| ENST00000697293.1:c.2065A>G | ENSP00000513230.1:p.Lys689Glu | |
| ENST00000697294.1:c.*1676A>G | ENSP00000513231.1:n.*1676A>G | |
| ENST00000697295.1:c.*1374A>G | ENSP00000513232.1:n.*1374A>G | |
| ENST00000697296.1:c.*1733A>G | ENSP00000513233.1:n.*1733A>G | |
| ENST00000697297.1:n.3850A>G | ||
| ENST00000697298.1:c.1819A>G | ENSP00000513234.1:p.Lys607Glu | |
| ENST00000697299.1:c.1819A>G | ENSP00000513235.1:p.Lys607Glu | |
| ENST00000697300.1:c.*1669A>G | ENSP00000513236.1:n.*1669A>G | |
| ENST00000697301.1:c.*1586A>G | ENSP00000513237.1:n.*1586A>G | |
| ENST00000697302.1:c.*1586A>G | ENSP00000513238.1:n.*1586A>G | |
| ENST00000697303.1:c.*1669A>G | ENSP00000513239.1:n.*1669A>G | |
| ENST00000697304.1:c.1753A>G | ENSP00000513240.1:p.Lys585Glu | |
| ENST00000697306.1:c.*2616A>G | ENSP00000513241.1:n.*2616A>G | |
| ENST00000697307.1:c.1846-2779A>G | ENSP00000513242.1:n.1846-2779A>G | |
| ENST00000697308.1:c.1996A>G | ENSP00000513243.1:p.Lys666Glu | |
| ENST00000697309.1:c.2065A>G | ENSP00000513244.1:p.Lys689Glu | |
| ENST00000697310.1:c.2065A>G | ENSP00000513245.1:p.Lys689Glu | |
| ENST00000697311.1:c.2065A>G | ENSP00000513246.1:p.Lys689Glu | |
| ENST00000697312.1:c.*1463A>G | ENSP00000513247.1:n.*1463A>G | |
| ENST00000697313.1:n.2688-10533A>G | ||
| ENST00000697314.1:n.3636+7099A>G | ||
| ENST00000697315.1:c.2065A>G | ENSP00000513248.1:p.Lys689Glu | |
| ENST00000697316.1:n.2186A>G | ||
| ENST00000697317.1:n.2156A>G | ||
| ENST00000265433.8:c.2065A>G MANE Select | ENSP00000265433.4:p.Lys689Glu | |
| ENST00000265433.7:c.2065A>G | ENSP00000265433.3:p.Lys689Glu | |
| ENST00000396252.6:c.*1938A>G | ENSP00000379551.2:n.*1938A>G | |
| ENST00000409330.5:c.1819A>G | ENSP00000386924.1:p.Lys607Glu | |
| ENST00000520325.1:n.481A>G | ||
| ENST00000613033.1:c.180+1679A>G | ENSP00000484487.1:n.180+1679A>G | |
| NM_001024688.2:c.1819A>G | NP_001019859.1:p.Lys607Glu | |
| NM_002485.4:c.2065A>G , LRG_158t1:c.2065A>G | NP_002476.2:p.Lys689Glu | |
| XM_011517044.1:c.2041A>G | XP_011515346.1:p.Lys681Glu | |
| XM_011517045.1:c.1819A>G | XP_011515347.1:p.Lys607Glu | |
| XM_017013460.1:c.1186A>G | XP_016868949.1:p.Lys396Glu | |
| XM_017013462.2:c.1186A>G | XP_016868951.1:p.Lys396Glu | |
| XM_024447163.1:c.1819A>G | XP_024302931.1:p.Lys607Glu | |
| XM_024447164.1:c.1819A>G | XP_024302932.1:p.Lys607Glu | |
| XM_024447165.1:c.1186A>G | XP_024302933.1:p.Lys396Glu | |
| NM_002485.5:c.2065A>G MANE Select | NP_002476.2:p.Lys689Glu | |
| NM_001024688.3:c.1819A>G | NP_001019859.1:p.Lys607Glu |