Linked Data
ClinVar Variation Id:
2147010
ClinVar RCV Id:
RCV003060680
dbSNP Id:
rs1052513792
gnomAD v2:
11-111680348-T-C
gnomAD v3:
11-111809624-T-C
gnomAD v4:
11-111809624-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.111809624T>C , CM000673.2:g.111809624T>C | GRCh38 |
| NC_000011.9:g.111680348T>C , CM000673.1:g.111680348T>C | GRCh37 |
| NC_000011.8:g.111185558T>C | NCBI36 |
| NG_009210.1:g.66957A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000616540.5:c.1733+19A>G MANE Select | ENSP00000482437.1:n.1733+19A>G | |
| ENST00000398006.6:c.1199+19A>G | ENSP00000381090.2:n.1199+19A>G | |
| ENST00000524671.1:c.67+19A>G | ||
| ENST00000525910.1:c.48+19A>G | ||
| ENST00000526272.5:n.297+19A>G | ||
| ENST00000527212.5:n.252+19A>G | ||
| ENST00000530851.6:n.687A>G | ||
| ENST00000531154.5:c.1220+19A>G | ENSP00000435517.1:n.1220+19A>G | |
| ENST00000532425.6:c.466+19A>G | ||
| ENST00000614444.4:c.1712+19A>G | ENSP00000484200.1:n.1712+19A>G | |
| ENST00000616540.4:c.1733+19A>G | ENSP00000482437.1:n.1733+19A>G | |
| ENST00000619129.4:c.*1264+19A>G | ENSP00000480661.1:n.*1264+19A>G | |
| ENST00000622211.4:c.2411+19A>G | ENSP00000482396.1:n.2411+19A>G | |
| NM_001077690.1:c.1712+19A>G | NP_001071158.1:n.1712+19A>G | |
| NM_001077691.1:c.1220+19A>G | NP_001071159.1:n.1220+19A>G | |
| NM_001077692.1:c.1199+19A>G | NP_001071160.1:n.1199+19A>G | |
| NM_024740.2:c.1733+19A>G MANE Select | NP_079016.2:n.1733+19A>G | |
| XM_005277723.3:c.1733+19A>G | XP_005277780.1:n.1733+19A>G | |
| XM_005277724.3:c.1712+19A>G | XP_005277781.1:n.1712+19A>G | |
| XM_006718913.2:c.1733+19A>G | XP_006718976.1:n.1733+19A>G | |
| XM_011542990.1:c.1733+19A>G | XP_011541292.1:n.1733+19A>G | |
| XM_011542991.1:c.1712+19A>G | XP_011541293.1:n.1712+19A>G | |
| XM_011542992.1:c.1733+19A>G | XP_011541294.1:n.1733+19A>G | |
| XM_011542993.1:c.1220+19A>G | XP_011541295.1:n.1220+19A>G | |
| XM_011542994.1:c.1220+19A>G | XP_011541296.1:n.1220+19A>G | |
| XM_011542995.1:c.1220+19A>G | XP_011541297.1:n.1220+19A>G | |
| XM_011542996.1:c.1220+19A>G | XP_011541298.1:n.1220+19A>G | |
| XM_011542997.1:c.1145+19A>G | XP_011541299.1:n.1145+19A>G | |
| XR_947863.1:n.1832+19A>G | ||
| XR_947864.1:n.1656+19A>G | ||
| XR_947865.1:n.1656+19A>G | ||
| NM_001352409.1:c.1199+19A>G | NP_001339338.1:n.1199+19A>G | |
| NM_001352410.1:c.1199+19A>G | NP_001339339.1:n.1199+19A>G | |
| NM_001352411.1:c.1199+19A>G | NP_001339340.1:n.1199+19A>G | |
| NM_001352412.1:c.1199+19A>G | NP_001339341.1:n.1199+19A>G | |
| NM_001352413.1:c.1220+19A>G | NP_001339342.1:n.1220+19A>G | |
| NM_001352414.1:c.1220+19A>G | NP_001339343.1:n.1220+19A>G | |
| NM_001352415.1:c.1199+19A>G | NP_001339344.1:n.1199+19A>G | |
| NM_001352416.1:c.1199+19A>G | NP_001339345.1:n.1199+19A>G | |
| NM_001352417.1:c.1712+19A>G | NP_001339346.1:n.1712+19A>G | |
| NM_001352418.1:c.1589+19A>G | NP_001339347.1:n.1589+19A>G | |
| NM_001352419.1:c.1220+19A>G | NP_001339348.1:n.1220+19A>G | |
| NM_001352420.1:c.1199+19A>G | NP_001339349.1:n.1199+19A>G | |
| NM_001352421.1:c.1199+19A>G | NP_001339350.1:n.1199+19A>G | |
| NM_001352422.1:c.1124+19A>G | NP_001339351.1:n.1124+19A>G | |
| NM_001352423.1:c.1076+19A>G | NP_001339352.1:n.1076+19A>G | |
| NR_147984.1:n.2109+19A>G | ||
| XM_005277723.5:c.1733+19A>G | XP_005277780.1:n.1733+19A>G | |
| XM_006718913.3:c.1733+19A>G | XP_006718976.1:n.1733+19A>G | |
| XM_011542992.2:c.1733+19A>G | XP_011541294.1:n.1733+19A>G | |
| XM_017018313.2:c.1712+19A>G | XP_016873802.1:n.1712+19A>G | |
| XM_017018314.2:c.1610+19A>G | XP_016873803.1:n.1610+19A>G | |
| XM_024448695.1:c.1712+19A>G | XP_024304463.1:n.1712+19A>G | |
| XR_001747967.2:n.1821+19A>G | ||
| XR_001747968.2:n.1800+19A>G | ||
| XR_001747969.2:n.1698+19A>G | ||
| XR_001747970.2:n.1800+19A>G | ||
| XR_001747971.1:n.2129+19A>G | ||
| XR_001747972.1:n.2133+19A>G | ||
| XR_001747973.1:n.1836+19A>G | ||
| XR_001747974.1:n.1949+19A>G | ||
| XR_001747975.1:n.2108+19A>G | ||
| XR_001747976.1:n.2112+19A>G | ||
| XR_001747977.1:n.1285+19A>G | ||
| XR_001747979.1:n.2088+19A>G | ||
| XR_001747980.1:n.1784+19A>G | ||
| XR_947863.3:n.1821+19A>G | ||
| XR_947864.2:n.1645+19A>G | ||
| XR_947865.2:n.1645+19A>G | ||
| NM_001077691.2:c.1220+19A>G | NP_001071159.1:n.1220+19A>G | |
| NM_001077692.2:c.1199+19A>G | NP_001071160.1:n.1199+19A>G | |
| NM_001352411.2:c.1199+19A>G | NP_001339340.1:n.1199+19A>G | |
| NM_001352412.2:c.1199+19A>G | NP_001339341.1:n.1199+19A>G | |
| NM_001352414.2:c.1220+19A>G | NP_001339343.1:n.1220+19A>G | |
| NM_001352420.2:c.1199+19A>G | NP_001339349.1:n.1199+19A>G | |
| NM_001352421.2:c.1199+19A>G | NP_001339350.1:n.1199+19A>G | |
| NM_001352422.2:c.1124+19A>G | NP_001339351.1:n.1124+19A>G | |
| NM_001352423.2:c.1076+19A>G | NP_001339352.1:n.1076+19A>G | |
| NR_147984.2:n.2129+19A>G |