Linked Data
ClinVar Variation Id:
302421
ClinVar RCV Id:
RCV000354142
dbSNP Id:
rs886047682
gnomAD v2:
11-111656756-T-C
gnomAD v3:
11-111786032-T-C
gnomAD v4:
11-111786032-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.111786032T>C , CM000673.2:g.111786032T>C | GRCh38 |
| NC_000011.9:g.111656756T>C , CM000673.1:g.111656756T>C | GRCh37 |
| NC_000011.8:g.111161966T>C | NCBI36 |
| NG_009210.1:g.90549A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000616540.5:c.*365A>G MANE Select | ENSP00000482437.1:n.*365A>G | |
| ENST00000532425.6:c.648A>G | ||
| NM_001077690.1:c.*365A>G | NP_001071158.1:n.*365A>G | |
| NM_001077691.1:c.*365A>G | NP_001071159.1:n.*365A>G | |
| NM_001077692.1:c.*365A>G | NP_001071160.1:n.*365A>G | |
| NM_024740.2:c.*365A>G MANE Select | NP_079016.2:n.*365A>G | |
| XM_005277723.3:c.*25A>G | XP_005277780.1:n.*25A>G | |
| XM_005277724.3:c.*25A>G | XP_005277781.1:n.*25A>G | |
| NM_001352409.1:c.*365A>G | NP_001339338.1:n.*365A>G | |
| NM_001352410.1:c.*365A>G | NP_001339339.1:n.*365A>G | |
| NM_001352411.1:c.*365A>G | NP_001339340.1:n.*365A>G | |
| NM_001352412.1:c.*365A>G | NP_001339341.1:n.*365A>G | |
| NM_001352413.1:c.*365A>G | NP_001339342.1:n.*365A>G | |
| NM_001352414.1:c.*365A>G | NP_001339343.1:n.*365A>G | |
| NM_001352415.1:c.*25A>G | NP_001339344.1:n.*25A>G | |
| NM_001352416.1:c.*25A>G | NP_001339345.1:n.*25A>G | |
| NM_001352417.1:c.*25A>G | NP_001339346.1:n.*25A>G | |
| NM_001352418.1:c.*365A>G | NP_001339347.1:n.*365A>G | |
| NM_001352419.1:c.*25A>G | NP_001339348.1:n.*25A>G | |
| NM_001352420.1:c.*494A>G | NP_001339349.1:n.*494A>G | |
| NM_001352421.1:c.*488A>G | NP_001339350.1:n.*488A>G | |
| NM_001352422.1:c.*365A>G | NP_001339351.1:n.*365A>G | |
| NM_001352423.1:c.*365A>G | NP_001339352.1:n.*365A>G | |
| NR_147984.1:n.2820A>G | ||
| XM_005277723.5:c.*25A>G | XP_005277780.1:n.*25A>G | |
| XM_017018314.2:c.*365A>G | XP_016873803.1:n.*365A>G | |
| XR_001747967.2:n.2003A>G | ||
| XR_001747968.2:n.1982A>G | ||
| XR_001747969.2:n.1880A>G | ||
| XR_001747971.1:n.2311A>G | ||
| XR_001747972.1:n.2315A>G | ||
| XR_001747973.1:n.2018A>G | ||
| XR_001747974.1:n.2131A>G | ||
| XR_001747975.1:n.2290A>G | ||
| XR_001747976.1:n.2294A>G | ||
| XR_001747977.1:n.1467A>G | ||
| NM_001077691.2:c.*365A>G | NP_001071159.1:n.*365A>G | |
| NM_001077692.2:c.*365A>G | NP_001071160.1:n.*365A>G | |
| NM_001352411.2:c.*365A>G | NP_001339340.1:n.*365A>G | |
| NM_001352412.2:c.*365A>G | NP_001339341.1:n.*365A>G | |
| NM_001352414.2:c.*365A>G | NP_001339343.1:n.*365A>G | |
| NM_001352420.2:c.*494A>G | NP_001339349.1:n.*494A>G | |
| NM_001352421.2:c.*488A>G | NP_001339350.1:n.*488A>G | |
| NM_001352422.2:c.*365A>G | NP_001339351.1:n.*365A>G | |
| NM_001352423.2:c.*365A>G | NP_001339352.1:n.*365A>G | |
| NR_147984.2:n.2840A>G |