Linked Data
ClinVar Variation Id:
2807947
ClinVar RCV Id:
RCV003618351
MyVariant Identifiers:
chr8:g.90949274A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89937046A>G , CM000670.2:g.89937046A>G | GRCh38 |
| NC_000008.10:g.90949274A>G , CM000670.1:g.90949274A>G | GRCh37 |
| NC_000008.9:g.91018450A>G | NCBI36 |
| NG_008860.1:g.52626T>C , LRG_158:g.52626T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474821.2:n.3634T>C | ||
| ENST00000494804.2:n.3516T>C | ||
| ENST00000517337.2:c.1968T>C | ENSP00000429971.2:p.Ser656= | |
| ENST00000523444.2:c.1968T>C | ENSP00000428252.2:p.Ser656= | |
| ENST00000697292.1:c.2214T>C | ENSP00000513229.1:p.Ser738= | |
| ENST00000697293.1:c.2265T>C | ENSP00000513230.1:p.Ser755= | |
| ENST00000697294.1:c.*1825T>C | ENSP00000513231.1:n.*1825T>C | |
| ENST00000697295.1:c.*1523T>C | ENSP00000513232.1:n.*1523T>C | |
| ENST00000697296.1:c.*1882T>C | ENSP00000513233.1:n.*1882T>C | |
| ENST00000697297.1:n.3999T>C | ||
| ENST00000697298.1:c.1968T>C | ENSP00000513234.1:p.Ser656= | |
| ENST00000697299.1:c.1968T>C | ENSP00000513235.1:p.Ser656= | |
| ENST00000697300.1:c.*1818T>C | ENSP00000513236.1:n.*1818T>C | |
| ENST00000697301.1:c.*1735T>C | ENSP00000513237.1:n.*1735T>C | |
| ENST00000697302.1:c.*1735T>C | ENSP00000513238.1:n.*1735T>C | |
| ENST00000697303.1:c.*1818T>C | ENSP00000513239.1:n.*1818T>C | |
| ENST00000697304.1:c.1902T>C | ENSP00000513240.1:p.Ser634= | |
| ENST00000697305.1:n.2481T>C | ||
| ENST00000697306.1:c.*2765T>C | ENSP00000513241.1:n.*2765T>C | |
| ENST00000697307.1:c.1989T>C | ENSP00000513242.1:p.Ser663= | |
| ENST00000697308.1:c.2145T>C | ENSP00000513243.1:p.Ser715= | |
| ENST00000697309.1:c.2185-1434T>C | ENSP00000513244.1:n.2185-1434T>C | |
| ENST00000697310.1:c.2214T>C | ENSP00000513245.1:p.Ser738= | |
| ENST00000697311.1:c.*479T>C | ENSP00000513246.1:n.*479T>C | |
| ENST00000697312.1:c.*1667T>C | ENSP00000513247.1:n.*1667T>C | |
| ENST00000697313.1:n.2688-1434T>C | ||
| ENST00000697314.1:n.3637-1434T>C | ||
| ENST00000697315.1:c.*118T>C | ENSP00000513248.1:n.*118T>C | |
| ENST00000697316.1:n.2335T>C | ||
| ENST00000265433.8:c.2214T>C MANE Select | ENSP00000265433.4:p.Ser738= | |
| ENST00000265433.7:c.2214T>C | ENSP00000265433.3:p.Ser738= | |
| ENST00000396252.6:c.*2087T>C | ENSP00000379551.2:n.*2087T>C | |
| ENST00000409330.5:c.1968T>C | ENSP00000386924.1:p.Ser656= | |
| ENST00000474821.1:n.302T>C | ||
| ENST00000613033.1:c.324T>C | ENSP00000484487.1:p.Ser108= | |
| NM_001024688.2:c.1968T>C | NP_001019859.1:p.Ser656= | |
| NM_002485.4:c.2214T>C , LRG_158t1:c.2214T>C | NP_002476.2:p.Ser738= | |
| XM_011517044.1:c.2190T>C | XP_011515346.1:p.Ser730= | |
| XM_011517045.1:c.1968T>C | XP_011515347.1:p.Ser656= | |
| XM_017013460.1:c.1335T>C | XP_016868949.1:p.Ser445= | |
| XM_017013462.2:c.1335T>C | XP_016868951.1:p.Ser445= | |
| XM_024447163.1:c.1968T>C | XP_024302931.1:p.Ser656= | |
| XM_024447164.1:c.1968T>C | XP_024302932.1:p.Ser656= | |
| XM_024447165.1:c.1335T>C | XP_024302933.1:p.Ser445= | |
| NM_002485.5:c.2214T>C MANE Select | NP_002476.2:p.Ser738= | |
| NM_001024688.3:c.1968T>C | NP_001019859.1:p.Ser656= |