Linked Data
ClinVar Variation Id:
127863
ClinVar RCV Id:
RCV000115786
RCV000230585
RCV000212753
RCV000515337
RCV001778709
RCV001328956
RCV003915124
dbSNP Id:
rs587780091
ExAC:
8:90958439 A / G
gnomAD v2:
8-90958439-A-G
gnomAD v3:
8-89946211-A-G
gnomAD v4:
8-89946211-A-G
COSMIC:
COSM2790247
PubMed:
PMID:26315354
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89946211A>G , CM000670.2:g.89946211A>G | GRCh38 |
| NC_000008.10:g.90958439A>G , CM000670.1:g.90958439A>G | GRCh37 |
| NC_000008.9:g.91027615A>G | NCBI36 |
| NG_008860.1:g.43461T>C , LRG_158:g.43461T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494804.2:n.3301T>C | ||
| ENST00000517337.2:c.1753T>C | ENSP00000429971.2:p.Ser585Pro | |
| ENST00000523444.2:c.1753T>C | ENSP00000428252.2:p.Ser585Pro | |
| ENST00000697292.1:c.1999T>C | ENSP00000513229.1:p.Ser667Pro | |
| ENST00000697293.1:c.1999T>C | ENSP00000513230.1:p.Ser667Pro | |
| ENST00000697294.1:c.*1610T>C | ENSP00000513231.1:n.*1610T>C | |
| ENST00000697295.1:c.*1308T>C | ENSP00000513232.1:n.*1308T>C | |
| ENST00000697296.1:c.*1667T>C | ENSP00000513233.1:n.*1667T>C | |
| ENST00000697297.1:n.3784T>C | ||
| ENST00000697298.1:c.1753T>C | ENSP00000513234.1:p.Ser585Pro | |
| ENST00000697299.1:c.1753T>C | ENSP00000513235.1:p.Ser585Pro | |
| ENST00000697300.1:c.*1603T>C | ENSP00000513236.1:n.*1603T>C | |
| ENST00000697301.1:c.*1520T>C | ENSP00000513237.1:n.*1520T>C | |
| ENST00000697302.1:c.*1520T>C | ENSP00000513238.1:n.*1520T>C | |
| ENST00000697303.1:c.*1603T>C | ENSP00000513239.1:n.*1603T>C | |
| ENST00000697304.1:c.1687T>C | ENSP00000513240.1:p.Ser563Pro | |
| ENST00000697306.1:c.*2550T>C | ENSP00000513241.1:n.*2550T>C | |
| ENST00000697307.1:c.1846-2845T>C | ENSP00000513242.1:n.1846-2845T>C | |
| ENST00000697308.1:c.1930T>C | ENSP00000513243.1:p.Ser644Pro | |
| ENST00000697309.1:c.1999T>C | ENSP00000513244.1:p.Ser667Pro | |
| ENST00000697310.1:c.1999T>C | ENSP00000513245.1:p.Ser667Pro | |
| ENST00000697311.1:c.1999T>C | ENSP00000513246.1:p.Ser667Pro | |
| ENST00000697312.1:c.*1397T>C | ENSP00000513247.1:n.*1397T>C | |
| ENST00000697313.1:n.2688-10599T>C | ||
| ENST00000697314.1:n.3636+7033T>C | ||
| ENST00000697315.1:c.1999T>C | ENSP00000513248.1:p.Ser667Pro | |
| ENST00000697316.1:n.2120T>C | ||
| ENST00000697317.1:n.2090T>C | ||
| ENST00000265433.8:c.1999T>C MANE Select | ENSP00000265433.4:p.Ser667Pro | |
| ENST00000265433.7:c.1999T>C | ENSP00000265433.3:p.Ser667Pro | |
| ENST00000396252.6:c.*1872T>C | ENSP00000379551.2:n.*1872T>C | |
| ENST00000409330.5:c.1753T>C | ENSP00000386924.1:p.Ser585Pro | |
| ENST00000520325.1:n.415T>C | ||
| ENST00000613033.1:c.180+1613T>C | ENSP00000484487.1:n.180+1613T>C | |
| NM_001024688.2:c.1753T>C | NP_001019859.1:p.Ser585Pro | |
| NM_002485.4:c.1999T>C , LRG_158t1:c.1999T>C | NP_002476.2:p.Ser667Pro | |
| XM_011517044.1:c.1975T>C | XP_011515346.1:p.Ser659Pro | |
| XM_011517045.1:c.1753T>C | XP_011515347.1:p.Ser585Pro | |
| XM_017013460.1:c.1120T>C | XP_016868949.1:p.Ser374Pro | |
| XM_017013462.2:c.1120T>C | XP_016868951.1:p.Ser374Pro | |
| XM_024447163.1:c.1753T>C | XP_024302931.1:p.Ser585Pro | |
| XM_024447164.1:c.1753T>C | XP_024302932.1:p.Ser585Pro | |
| XM_024447165.1:c.1120T>C | XP_024302933.1:p.Ser374Pro | |
| NM_002485.5:c.1999T>C MANE Select | NP_002476.2:p.Ser667Pro | |
| NM_001024688.3:c.1753T>C | NP_001019859.1:p.Ser585Pro |