Linked Data
ClinVar Variation Id:
1925558
ClinVar RCV Id:
RCV002618340
dbSNP Id:
rs781902066
ExAC:
11:111708966 A / C
gnomAD v2:
11-111708966-A-C
gnomAD v4:
11-111838243-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.111838243A>C , CM000673.2:g.111838243A>C | GRCh38 |
| NC_000011.9:g.111708966A>C , CM000673.1:g.111708966A>C | GRCh37 |
| NC_000011.8:g.111214176A>C | NCBI36 |
| NG_009210.1:g.38339T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000616540.5:c.1324+6T>G MANE Select | ENSP00000482437.1:n.1324+6T>G | |
| ENST00000398006.6:c.790+6T>G | ENSP00000381090.2:n.790+6T>G | |
| ENST00000527294.5:n.621+6T>G | ||
| ENST00000530851.6:n.537+15137T>G | ||
| ENST00000531154.5:c.811+6T>G | ENSP00000435517.1:n.811+6T>G | |
| ENST00000532425.6:c.57+6T>G | ||
| ENST00000613181.4:c.*725+6T>G | ENSP00000479335.1:n.*725+6T>G | |
| ENST00000614444.4:c.1303+6T>G | ENSP00000484200.1:n.1303+6T>G | |
| ENST00000616540.4:c.1324+6T>G | ENSP00000482437.1:n.1324+6T>G | |
| ENST00000619129.4:c.*855+6T>G | ENSP00000480661.1:n.*855+6T>G | |
| ENST00000622211.4:c.2002+6T>G | ENSP00000482396.1:n.2002+6T>G | |
| NM_001077690.1:c.1303+6T>G | NP_001071158.1:n.1303+6T>G | |
| NM_001077691.1:c.811+6T>G | NP_001071159.1:n.811+6T>G | |
| NM_001077692.1:c.790+6T>G | NP_001071160.1:n.790+6T>G | |
| NM_024740.2:c.1324+6T>G MANE Select | NP_079016.2:n.1324+6T>G | |
| XM_005277723.3:c.1324+6T>G | XP_005277780.1:n.1324+6T>G | |
| XM_005277724.3:c.1303+6T>G | XP_005277781.1:n.1303+6T>G | |
| XM_006718913.2:c.1324+6T>G | XP_006718976.1:n.1324+6T>G | |
| XM_011542990.1:c.1324+6T>G | XP_011541292.1:n.1324+6T>G | |
| XM_011542991.1:c.1303+6T>G | XP_011541293.1:n.1303+6T>G | |
| XM_011542992.1:c.1324+6T>G | XP_011541294.1:n.1324+6T>G | |
| XM_011542993.1:c.811+6T>G | XP_011541295.1:n.811+6T>G | |
| XM_011542994.1:c.811+6T>G | XP_011541296.1:n.811+6T>G | |
| XM_011542995.1:c.811+6T>G | XP_011541297.1:n.811+6T>G | |
| XM_011542996.1:c.811+6T>G | XP_011541298.1:n.811+6T>G | |
| XM_011542997.1:c.736+6T>G | XP_011541299.1:n.736+6T>G | |
| XR_947863.1:n.1423+6T>G | ||
| XR_947864.1:n.1247+6T>G | ||
| XR_947865.1:n.1247+6T>G | ||
| NM_001352409.1:c.790+6T>G | NP_001339338.1:n.790+6T>G | |
| NM_001352410.1:c.790+6T>G | NP_001339339.1:n.790+6T>G | |
| NM_001352411.1:c.790+6T>G | NP_001339340.1:n.790+6T>G | |
| NM_001352412.1:c.790+6T>G | NP_001339341.1:n.790+6T>G | |
| NM_001352413.1:c.811+6T>G | NP_001339342.1:n.811+6T>G | |
| NM_001352414.1:c.811+6T>G | NP_001339343.1:n.811+6T>G | |
| NM_001352415.1:c.790+6T>G | NP_001339344.1:n.790+6T>G | |
| NM_001352416.1:c.790+6T>G | NP_001339345.1:n.790+6T>G | |
| NM_001352417.1:c.1303+6T>G | NP_001339346.1:n.1303+6T>G | |
| NM_001352418.1:c.1180+6T>G | NP_001339347.1:n.1180+6T>G | |
| NM_001352419.1:c.811+6T>G | NP_001339348.1:n.811+6T>G | |
| NM_001352420.1:c.790+6T>G | NP_001339349.1:n.790+6T>G | |
| NM_001352421.1:c.790+6T>G | NP_001339350.1:n.790+6T>G | |
| NM_001352422.1:c.715+6T>G | NP_001339351.1:n.715+6T>G | |
| NM_001352423.1:c.667+6T>G | NP_001339352.1:n.667+6T>G | |
| NR_147984.1:n.1700+6T>G | ||
| XM_005277723.5:c.1324+6T>G | XP_005277780.1:n.1324+6T>G | |
| XM_006718913.3:c.1324+6T>G | XP_006718976.1:n.1324+6T>G | |
| XM_011542992.2:c.1324+6T>G | XP_011541294.1:n.1324+6T>G | |
| XM_017018313.2:c.1303+6T>G | XP_016873802.1:n.1303+6T>G | |
| XM_017018314.2:c.1201+6T>G | XP_016873803.1:n.1201+6T>G | |
| XM_024448695.1:c.1303+6T>G | XP_024304463.1:n.1303+6T>G | |
| XR_001747967.2:n.1412+6T>G | ||
| XR_001747968.2:n.1391+6T>G | ||
| XR_001747969.2:n.1289+6T>G | ||
| XR_001747970.2:n.1391+6T>G | ||
| XR_001747971.1:n.1720+6T>G | ||
| XR_001747972.1:n.1724+6T>G | ||
| XR_001747973.1:n.1427+6T>G | ||
| XR_001747974.1:n.1540+6T>G | ||
| XR_001747975.1:n.1699+6T>G | ||
| XR_001747976.1:n.1703+6T>G | ||
| XR_001747977.1:n.876+6T>G | ||
| XR_001747979.1:n.1679+6T>G | ||
| XR_001747980.1:n.1375+6T>G | ||
| XR_947863.3:n.1412+6T>G | ||
| XR_947864.2:n.1236+6T>G | ||
| XR_947865.2:n.1236+6T>G | ||
| NM_001077691.2:c.811+6T>G | NP_001071159.1:n.811+6T>G | |
| NM_001077692.2:c.790+6T>G | NP_001071160.1:n.790+6T>G | |
| NM_001352411.2:c.790+6T>G | NP_001339340.1:n.790+6T>G | |
| NM_001352412.2:c.790+6T>G | NP_001339341.1:n.790+6T>G | |
| NM_001352414.2:c.811+6T>G | NP_001339343.1:n.811+6T>G | |
| NM_001352420.2:c.790+6T>G | NP_001339349.1:n.790+6T>G | |
| NM_001352421.2:c.790+6T>G | NP_001339350.1:n.790+6T>G | |
| NM_001352422.2:c.715+6T>G | NP_001339351.1:n.715+6T>G | |
| NM_001352423.2:c.667+6T>G | NP_001339352.1:n.667+6T>G | |
| NR_147984.2:n.1720+6T>G |