Linked Data
ClinVar Variation Id:
483944
ClinVar RCV Id:
RCV000571157
dbSNP Id:
rs758675398
ExAC:
8:90958377 T / C
gnomAD v2:
8-90958377-T-C
gnomAD v3:
8-89946149-T-C
gnomAD v4:
8-89946149-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89946149T>C , CM000670.2:g.89946149T>C | GRCh38 |
| NC_000008.10:g.90958377T>C , CM000670.1:g.90958377T>C | GRCh37 |
| NC_000008.9:g.91027553T>C | NCBI36 |
| NG_008860.1:g.43523A>G , LRG_158:g.43523A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000494804.2:n.3363A>G | ||
| ENST00000517337.2:c.1815A>G | ENSP00000429971.2:p.Lys605= | |
| ENST00000523444.2:c.1815A>G | ENSP00000428252.2:p.Lys605= | |
| ENST00000697292.1:c.2061A>G | ENSP00000513229.1:p.Lys687= | |
| ENST00000697293.1:c.2061A>G | ENSP00000513230.1:p.Lys687= | |
| ENST00000697294.1:c.*1672A>G | ENSP00000513231.1:n.*1672A>G | |
| ENST00000697295.1:c.*1370A>G | ENSP00000513232.1:n.*1370A>G | |
| ENST00000697296.1:c.*1729A>G | ENSP00000513233.1:n.*1729A>G | |
| ENST00000697297.1:n.3846A>G | ||
| ENST00000697298.1:c.1815A>G | ENSP00000513234.1:p.Lys605= | |
| ENST00000697299.1:c.1815A>G | ENSP00000513235.1:p.Lys605= | |
| ENST00000697300.1:c.*1665A>G | ENSP00000513236.1:n.*1665A>G | |
| ENST00000697301.1:c.*1582A>G | ENSP00000513237.1:n.*1582A>G | |
| ENST00000697302.1:c.*1582A>G | ENSP00000513238.1:n.*1582A>G | |
| ENST00000697303.1:c.*1665A>G | ENSP00000513239.1:n.*1665A>G | |
| ENST00000697304.1:c.1749A>G | ENSP00000513240.1:p.Lys583= | |
| ENST00000697306.1:c.*2612A>G | ENSP00000513241.1:n.*2612A>G | |
| ENST00000697307.1:c.1846-2783A>G | ENSP00000513242.1:n.1846-2783A>G | |
| ENST00000697308.1:c.1992A>G | ENSP00000513243.1:p.Lys664= | |
| ENST00000697309.1:c.2061A>G | ENSP00000513244.1:p.Lys687= | |
| ENST00000697310.1:c.2061A>G | ENSP00000513245.1:p.Lys687= | |
| ENST00000697311.1:c.2061A>G | ENSP00000513246.1:p.Lys687= | |
| ENST00000697312.1:c.*1459A>G | ENSP00000513247.1:n.*1459A>G | |
| ENST00000697313.1:n.2688-10537A>G | ||
| ENST00000697314.1:n.3636+7095A>G | ||
| ENST00000697315.1:c.2061A>G | ENSP00000513248.1:p.Lys687= | |
| ENST00000697316.1:n.2182A>G | ||
| ENST00000697317.1:n.2152A>G | ||
| ENST00000265433.8:c.2061A>G MANE Select | ENSP00000265433.4:p.Lys687= | |
| ENST00000265433.7:c.2061A>G | ENSP00000265433.3:p.Lys687= | |
| ENST00000396252.6:c.*1934A>G | ENSP00000379551.2:n.*1934A>G | |
| ENST00000409330.5:c.1815A>G | ENSP00000386924.1:p.Lys605= | |
| ENST00000520325.1:n.477A>G | ||
| ENST00000613033.1:c.180+1675A>G | ENSP00000484487.1:n.180+1675A>G | |
| NM_001024688.2:c.1815A>G | NP_001019859.1:p.Lys605= | |
| NM_002485.4:c.2061A>G , LRG_158t1:c.2061A>G | NP_002476.2:p.Lys687= | |
| XM_011517044.1:c.2037A>G | XP_011515346.1:p.Lys679= | |
| XM_011517045.1:c.1815A>G | XP_011515347.1:p.Lys605= | |
| XM_017013460.1:c.1182A>G | XP_016868949.1:p.Lys394= | |
| XM_017013462.2:c.1182A>G | XP_016868951.1:p.Lys394= | |
| XM_024447163.1:c.1815A>G | XP_024302931.1:p.Lys605= | |
| XM_024447164.1:c.1815A>G | XP_024302932.1:p.Lys605= | |
| XM_024447165.1:c.1182A>G | XP_024302933.1:p.Lys394= | |
| NM_002485.5:c.2061A>G MANE Select | NP_002476.2:p.Lys687= | |
| NM_001024688.3:c.1815A>G | NP_001019859.1:p.Lys605= |