Linked Data
ClinVar Variation Id:
141273
dbSNP Id:
rs199657566
ExAC:
8:90960054 A / G
gnomAD v2:
8-90960054-A-G
gnomAD v3:
8-89947826-A-G
gnomAD v4:
8-89947826-A-G
PubMed:
PMID:24349281
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89947826A>G , CM000670.2:g.89947826A>G | GRCh38 |
| NC_000008.10:g.90960054A>G , CM000670.1:g.90960054A>G | GRCh37 |
| NC_000008.9:g.91029230A>G | NCBI36 |
| NG_008860.1:g.41846T>C , LRG_158:g.41846T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494804.2:n.3214T>C | ||
| ENST00000517337.2:c.1666T>C | ENSP00000429971.2:p.Ser556Pro | |
| ENST00000523444.2:c.1666T>C | ENSP00000428252.2:p.Ser556Pro | |
| ENST00000697292.1:c.1912T>C | ENSP00000513229.1:p.Ser638Pro | |
| ENST00000697293.1:c.1912T>C | ENSP00000513230.1:p.Ser638Pro | |
| ENST00000697294.1:c.*1523T>C | ENSP00000513231.1:n.*1523T>C | |
| ENST00000697295.1:c.*1221T>C | ENSP00000513232.1:n.*1221T>C | |
| ENST00000697296.1:c.*1580T>C | ENSP00000513233.1:n.*1580T>C | |
| ENST00000697297.1:n.3697T>C | ||
| ENST00000697298.1:c.1666T>C | ENSP00000513234.1:p.Ser556Pro | |
| ENST00000697299.1:c.1666T>C | ENSP00000513235.1:p.Ser556Pro | |
| ENST00000697300.1:c.*1516T>C | ENSP00000513236.1:n.*1516T>C | |
| ENST00000697301.1:c.*1433T>C | ENSP00000513237.1:n.*1433T>C | |
| ENST00000697302.1:c.*1433T>C | ENSP00000513238.1:n.*1433T>C | |
| ENST00000697303.1:c.*1516T>C | ENSP00000513239.1:n.*1516T>C | |
| ENST00000697304.1:c.1600T>C | ENSP00000513240.1:p.Ser534Pro | |
| ENST00000697306.1:c.*935T>C | ENSP00000513241.1:n.*935T>C | |
| ENST00000697307.1:c.1846-4460T>C | ENSP00000513242.1:n.1846-4460T>C | |
| ENST00000697308.1:c.1846-1531T>C | ENSP00000513243.1:n.1846-1531T>C | |
| ENST00000697309.1:c.1912T>C | ENSP00000513244.1:p.Ser638Pro | |
| ENST00000697310.1:c.1912T>C | ENSP00000513245.1:p.Ser638Pro | |
| ENST00000697311.1:c.1912T>C | ENSP00000513246.1:p.Ser638Pro | |
| ENST00000697312.1:c.*1310T>C | ENSP00000513247.1:n.*1310T>C | |
| ENST00000697313.1:n.2688-12214T>C | ||
| ENST00000697314.1:n.3636+5418T>C | ||
| ENST00000697315.1:c.1912T>C | ENSP00000513248.1:p.Ser638Pro | |
| ENST00000697316.1:n.2033T>C | ||
| ENST00000697317.1:n.2005+17T>C | ||
| ENST00000265433.8:c.1912T>C MANE Select | ENSP00000265433.4:p.Ser638Pro | |
| ENST00000265433.7:c.1912T>C | ENSP00000265433.3:p.Ser638Pro | |
| ENST00000396252.6:c.*1785T>C | ENSP00000379551.2:n.*1785T>C | |
| ENST00000409330.5:c.1666T>C | ENSP00000386924.1:p.Ser556Pro | |
| ENST00000613033.1:c.178T>C | ENSP00000484487.1:p.Ser60Pro | |
| NM_001024688.2:c.1666T>C | NP_001019859.1:p.Ser556Pro | |
| NM_002485.4:c.1912T>C , LRG_158t1:c.1912T>C | NP_002476.2:p.Ser638Pro | |
| XM_011517044.1:c.1888T>C | XP_011515346.1:p.Ser630Pro | |
| XM_011517045.1:c.1666T>C | XP_011515347.1:p.Ser556Pro | |
| XR_928335.1:n.2051T>C | ||
| XM_017013460.1:c.1033T>C | XP_016868949.1:p.Ser345Pro | |
| XM_017013462.2:c.1033T>C | XP_016868951.1:p.Ser345Pro | |
| XM_024447163.1:c.1666T>C | XP_024302931.1:p.Ser556Pro | |
| XM_024447164.1:c.1666T>C | XP_024302932.1:p.Ser556Pro | |
| XM_024447165.1:c.1033T>C | XP_024302933.1:p.Ser345Pro | |
| NM_002485.5:c.1912T>C MANE Select | NP_002476.2:p.Ser638Pro | |
| NM_001024688.3:c.1666T>C | NP_001019859.1:p.Ser556Pro |