Linked Data
ClinVar Variation Id:
2014845
ClinVar RCV Id:
RCV002839168
dbSNP Id:
rs782500957
ExAC:
11:111708311 G / C
gnomAD v2:
11-111708311-G-C
gnomAD v4:
11-111837588-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.111837588G>C , CM000673.2:g.111837588G>C | GRCh38 |
| NC_000011.9:g.111708311G>C , CM000673.1:g.111708311G>C | GRCh37 |
| NC_000011.8:g.111213521G>C | NCBI36 |
| NG_009210.1:g.38994C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000616540.5:c.1352C>G MANE Select | ENSP00000482437.1:p.Pro451Arg | |
| ENST00000398006.6:c.818C>G | ENSP00000381090.2:p.Pro273Arg | |
| ENST00000527294.5:n.649C>G | ||
| ENST00000530851.6:n.537+15792C>G | ||
| ENST00000531154.5:c.839C>G | ENSP00000435517.1:p.Pro280Arg | |
| ENST00000532425.6:c.85C>G | ||
| ENST00000613181.4:c.*753C>G | ENSP00000479335.1:n.*753C>G | |
| ENST00000614444.4:c.1331C>G | ENSP00000484200.1:p.Pro444Arg | |
| ENST00000616540.4:c.1352C>G | ENSP00000482437.1:p.Pro451Arg | |
| ENST00000619129.4:c.*883C>G | ENSP00000480661.1:n.*883C>G | |
| ENST00000622211.4:c.2030C>G | ENSP00000482396.1:p.Pro677Arg | |
| NM_001077690.1:c.1331C>G | NP_001071158.1:p.Pro444Arg | |
| NM_001077691.1:c.839C>G | NP_001071159.1:p.Pro280Arg | |
| NM_001077692.1:c.818C>G | NP_001071160.1:p.Pro273Arg | |
| NM_024740.2:c.1352C>G MANE Select | NP_079016.2:p.Pro451Arg | |
| XM_005277723.3:c.1352C>G | XP_005277780.1:p.Pro451Arg | |
| XM_005277724.3:c.1331C>G | XP_005277781.1:p.Pro444Arg | |
| XM_006718913.2:c.1352C>G | XP_006718976.1:p.Pro451Arg | |
| XM_011542990.1:c.1352C>G | XP_011541292.1:p.Pro451Arg | |
| XM_011542991.1:c.1331C>G | XP_011541293.1:p.Pro444Arg | |
| XM_011542992.1:c.1352C>G | XP_011541294.1:p.Pro451Arg | |
| XM_011542993.1:c.839C>G | XP_011541295.1:p.Pro280Arg | |
| XM_011542994.1:c.839C>G | XP_011541296.1:p.Pro280Arg | |
| XM_011542995.1:c.839C>G | XP_011541297.1:p.Pro280Arg | |
| XM_011542996.1:c.839C>G | XP_011541298.1:p.Pro280Arg | |
| XM_011542997.1:c.764C>G | XP_011541299.1:p.Pro255Arg | |
| XR_947863.1:n.1451C>G | ||
| XR_947864.1:n.1275C>G | ||
| XR_947865.1:n.1275C>G | ||
| NM_001352409.1:c.818C>G | NP_001339338.1:p.Pro273Arg | |
| NM_001352410.1:c.818C>G | NP_001339339.1:p.Pro273Arg | |
| NM_001352411.1:c.818C>G | NP_001339340.1:p.Pro273Arg | |
| NM_001352412.1:c.818C>G | NP_001339341.1:p.Pro273Arg | |
| NM_001352413.1:c.839C>G | NP_001339342.1:p.Pro280Arg | |
| NM_001352414.1:c.839C>G | NP_001339343.1:p.Pro280Arg | |
| NM_001352415.1:c.818C>G | NP_001339344.1:p.Pro273Arg | |
| NM_001352416.1:c.818C>G | NP_001339345.1:p.Pro273Arg | |
| NM_001352417.1:c.1331C>G | NP_001339346.1:p.Pro444Arg | |
| NM_001352418.1:c.1208C>G | NP_001339347.1:p.Pro403Arg | |
| NM_001352419.1:c.839C>G | NP_001339348.1:p.Pro280Arg | |
| NM_001352420.1:c.818C>G | NP_001339349.1:p.Pro273Arg | |
| NM_001352421.1:c.818C>G | NP_001339350.1:p.Pro273Arg | |
| NM_001352422.1:c.743C>G | NP_001339351.1:p.Pro248Arg | |
| NM_001352423.1:c.695C>G | NP_001339352.1:p.Pro232Arg | |
| NR_147984.1:n.1728C>G | ||
| XM_005277723.5:c.1352C>G | XP_005277780.1:p.Pro451Arg | |
| XM_006718913.3:c.1352C>G | XP_006718976.1:p.Pro451Arg | |
| XM_011542992.2:c.1352C>G | XP_011541294.1:p.Pro451Arg | |
| XM_017018313.2:c.1331C>G | XP_016873802.1:p.Pro444Arg | |
| XM_017018314.2:c.1229C>G | XP_016873803.1:p.Pro410Arg | |
| XM_024448695.1:c.1331C>G | XP_024304463.1:p.Pro444Arg | |
| XR_001747967.2:n.1440C>G | ||
| XR_001747968.2:n.1419C>G | ||
| XR_001747969.2:n.1317C>G | ||
| XR_001747970.2:n.1419C>G | ||
| XR_001747971.1:n.1748C>G | ||
| XR_001747972.1:n.1752C>G | ||
| XR_001747973.1:n.1455C>G | ||
| XR_001747974.1:n.1568C>G | ||
| XR_001747975.1:n.1727C>G | ||
| XR_001747976.1:n.1731C>G | ||
| XR_001747977.1:n.904C>G | ||
| XR_001747979.1:n.1707C>G | ||
| XR_001747980.1:n.1403C>G | ||
| XR_947863.3:n.1440C>G | ||
| XR_947864.2:n.1264C>G | ||
| XR_947865.2:n.1264C>G | ||
| NM_001077691.2:c.839C>G | NP_001071159.1:p.Pro280Arg | |
| NM_001077692.2:c.818C>G | NP_001071160.1:p.Pro273Arg | |
| NM_001352411.2:c.818C>G | NP_001339340.1:p.Pro273Arg | |
| NM_001352412.2:c.818C>G | NP_001339341.1:p.Pro273Arg | |
| NM_001352414.2:c.839C>G | NP_001339343.1:p.Pro280Arg | |
| NM_001352420.2:c.818C>G | NP_001339349.1:p.Pro273Arg | |
| NM_001352421.2:c.818C>G | NP_001339350.1:p.Pro273Arg | |
| NM_001352422.2:c.743C>G | NP_001339351.1:p.Pro248Arg | |
| NM_001352423.2:c.695C>G | NP_001339352.1:p.Pro232Arg | |
| NR_147984.2:n.1748C>G |