Linked Data
ClinVar Variation Id:
302424
ClinVar RCV Id:
RCV000369187
dbSNP Id:
rs781789551
gnomAD v2:
11-111656892-T-C
gnomAD v3:
11-111786168-T-C
gnomAD v4:
11-111786168-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.111786168T>C , CM000673.2:g.111786168T>C | GRCh38 |
| NC_000011.9:g.111656892T>C , CM000673.1:g.111656892T>C | GRCh37 |
| NC_000011.8:g.111162102T>C | NCBI36 |
| NG_009210.1:g.90413A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000616540.5:c.*229A>G MANE Select | ENSP00000482437.1:n.*229A>G | |
| ENST00000527212.5:n.605A>G | ||
| ENST00000532425.6:c.586-74A>G | ||
| NM_001077690.1:c.*229A>G | NP_001071158.1:n.*229A>G | |
| NM_001077691.1:c.*229A>G | NP_001071159.1:n.*229A>G | |
| NM_001077692.1:c.*229A>G | NP_001071160.1:n.*229A>G | |
| NM_024740.2:c.*229A>G MANE Select | NP_079016.2:n.*229A>G | |
| XM_005277723.3:c.1853-74A>G | XP_005277780.1:n.1853-74A>G | |
| XM_005277724.3:c.1832-74A>G | XP_005277781.1:n.1832-74A>G | |
| NM_001352409.1:c.*229A>G | NP_001339338.1:n.*229A>G | |
| NM_001352410.1:c.*229A>G | NP_001339339.1:n.*229A>G | |
| NM_001352411.1:c.*229A>G | NP_001339340.1:n.*229A>G | |
| NM_001352412.1:c.*229A>G | NP_001339341.1:n.*229A>G | |
| NM_001352413.1:c.*229A>G | NP_001339342.1:n.*229A>G | |
| NM_001352414.1:c.*229A>G | NP_001339343.1:n.*229A>G | |
| NM_001352415.1:c.1319-74A>G | NP_001339344.1:n.1319-74A>G | |
| NM_001352416.1:c.1319-74A>G | NP_001339345.1:n.1319-74A>G | |
| NM_001352417.1:c.1832-74A>G | NP_001339346.1:n.1832-74A>G | |
| NM_001352418.1:c.*229A>G | NP_001339347.1:n.*229A>G | |
| NM_001352419.1:c.1340-74A>G | NP_001339348.1:n.1340-74A>G | |
| NM_001352420.1:c.*358A>G | NP_001339349.1:n.*358A>G | |
| NM_001352421.1:c.*352A>G | NP_001339350.1:n.*352A>G | |
| NM_001352422.1:c.*229A>G | NP_001339351.1:n.*229A>G | |
| NM_001352423.1:c.*229A>G | NP_001339352.1:n.*229A>G | |
| NR_147984.1:n.2684A>G | ||
| XM_005277723.5:c.1853-74A>G | XP_005277780.1:n.1853-74A>G | |
| XM_017018314.2:c.*229A>G | XP_016873803.1:n.*229A>G | |
| XR_001747967.2:n.1941-74A>G | ||
| XR_001747968.2:n.1920-74A>G | ||
| XR_001747969.2:n.1818-74A>G | ||
| XR_001747971.1:n.2249-74A>G | ||
| XR_001747972.1:n.2253-74A>G | ||
| XR_001747973.1:n.1956-74A>G | ||
| XR_001747974.1:n.2069-74A>G | ||
| XR_001747975.1:n.2228-74A>G | ||
| XR_001747976.1:n.2232-74A>G | ||
| XR_001747977.1:n.1405-74A>G | ||
| NM_001077691.2:c.*229A>G | NP_001071159.1:n.*229A>G | |
| NM_001077692.2:c.*229A>G | NP_001071160.1:n.*229A>G | |
| NM_001352411.2:c.*229A>G | NP_001339340.1:n.*229A>G | |
| NM_001352412.2:c.*229A>G | NP_001339341.1:n.*229A>G | |
| NM_001352414.2:c.*229A>G | NP_001339343.1:n.*229A>G | |
| NM_001352420.2:c.*358A>G | NP_001339349.1:n.*358A>G | |
| NM_001352421.2:c.*352A>G | NP_001339350.1:n.*352A>G | |
| NM_001352422.2:c.*229A>G | NP_001339351.1:n.*229A>G | |
| NM_001352423.2:c.*229A>G | NP_001339352.1:n.*229A>G | |
| NR_147984.2:n.2704A>G |