Linked Data
ClinVar Variation Id:
302403
dbSNP Id:
rs563719515
gnomAD v2:
11-111655441-C-A
gnomAD v3:
11-111784717-C-A
gnomAD v4:
11-111784717-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.111784717C>A , CM000673.2:g.111784717C>A | GRCh38 |
| NC_000011.9:g.111655441C>A , CM000673.1:g.111655441C>A | GRCh37 |
| NC_000011.8:g.111160651C>A | NCBI36 |
| NG_009210.1:g.91864G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000616540.5:c.*1680G>T MANE Select | ENSP00000482437.1:n.*1680G>T | |
| ENST00000532425.6:c.1963G>T | ||
| NM_001077690.1:c.*1680G>T | NP_001071158.1:n.*1680G>T | |
| NM_001077691.1:c.*1680G>T | NP_001071159.1:n.*1680G>T | |
| NM_001077692.1:c.*1680G>T | NP_001071160.1:n.*1680G>T | |
| NM_024740.2:c.*1680G>T MANE Select | NP_079016.2:n.*1680G>T | |
| XM_005277723.3:c.*1340G>T | XP_005277780.1:n.*1340G>T | |
| XM_005277724.3:c.*1340G>T | XP_005277781.1:n.*1340G>T | |
| NM_001352409.1:c.*1680G>T | NP_001339338.1:n.*1680G>T | |
| NM_001352410.1:c.*1680G>T | NP_001339339.1:n.*1680G>T | |
| NM_001352411.1:c.*1680G>T | NP_001339340.1:n.*1680G>T | |
| NM_001352412.1:c.*1680G>T | NP_001339341.1:n.*1680G>T | |
| NM_001352413.1:c.*1680G>T | NP_001339342.1:n.*1680G>T | |
| NM_001352414.1:c.*1680G>T | NP_001339343.1:n.*1680G>T | |
| NM_001352415.1:c.*1340G>T | NP_001339344.1:n.*1340G>T | |
| NM_001352416.1:c.*1340G>T | NP_001339345.1:n.*1340G>T | |
| NM_001352417.1:c.*1340G>T | NP_001339346.1:n.*1340G>T | |
| NM_001352418.1:c.*1680G>T | NP_001339347.1:n.*1680G>T | |
| NM_001352419.1:c.*1340G>T | NP_001339348.1:n.*1340G>T | |
| NM_001352420.1:c.*1809G>T | NP_001339349.1:n.*1809G>T | |
| NM_001352421.1:c.*1803G>T | NP_001339350.1:n.*1803G>T | |
| NM_001352422.1:c.*1680G>T | NP_001339351.1:n.*1680G>T | |
| NM_001352423.1:c.*1680G>T | NP_001339352.1:n.*1680G>T | |
| NR_147984.1:n.4135G>T | ||
| XM_005277723.5:c.*1340G>T | XP_005277780.1:n.*1340G>T | |
| XM_017018314.2:c.*1680G>T | XP_016873803.1:n.*1680G>T | |
| XR_001747967.2:n.2246+1072G>T | ||
| XR_001747968.2:n.2225+1072G>T | ||
| XR_001747969.2:n.2123+1072G>T | ||
| XR_001747971.1:n.2554+1072G>T | ||
| XR_001747972.1:n.2558+1072G>T | ||
| XR_001747973.1:n.2261+1072G>T | ||
| XR_001747974.1:n.2374+1072G>T | ||
| XR_001747975.1:n.2533+1072G>T | ||
| XR_001747976.1:n.2537+1072G>T | ||
| XR_001747977.1:n.1710+1072G>T | ||
| NM_001077691.2:c.*1680G>T | NP_001071159.1:n.*1680G>T | |
| NM_001077692.2:c.*1680G>T | NP_001071160.1:n.*1680G>T | |
| NM_001352411.2:c.*1680G>T | NP_001339340.1:n.*1680G>T | |
| NM_001352412.2:c.*1680G>T | NP_001339341.1:n.*1680G>T | |
| NM_001352414.2:c.*1680G>T | NP_001339343.1:n.*1680G>T | |
| NM_001352420.2:c.*1809G>T | NP_001339349.1:n.*1809G>T | |
| NM_001352421.2:c.*1803G>T | NP_001339350.1:n.*1803G>T | |
| NM_001352422.2:c.*1680G>T | NP_001339351.1:n.*1680G>T | |
| NM_001352423.2:c.*1680G>T | NP_001339352.1:n.*1680G>T | |
| NR_147984.2:n.4155G>T |