Linked Data
ClinVar Variation Id:
308323
ClinVar RCV Id:
RCV000329526
dbSNP Id:
rs886049264
gnomAD v2:
12-32795248-G-A
gnomAD v3:
12-32642314-G-A
gnomAD v4:
12-32642314-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32642314G>A , CM000674.2:g.32642314G>A | GRCh38 |
| NC_000012.11:g.32795248G>A , CM000674.1:g.32795248G>A | GRCh37 |
| NC_000012.10:g.32686515G>A | NCBI36 |
| NG_008626.2:g.247786G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000427716.7:c.*1781G>A | ENSP00000394487.2:n.*1781G>A | |
| ENST00000531134.6:c.*1781G>A | ENSP00000431323.1:n.*1781G>A | |
| ENST00000534526.7:c.*1781G>A MANE Select | ENSP00000449273.1:n.*1781G>A | |
| ENST00000427716.6:c.*1781G>A | ENSP00000394487.2:n.*1781G>A | |
| ENST00000494977.1:c.2110-447G>A | ||
| NM_001304480.1:c.*1781G>A | NP_001291409.1:n.*1781G>A | |
| NM_001304481.1:c.*1781G>A | NP_001291410.1:n.*1781G>A | |
| NM_001304484.1:c.*1781G>A | NP_001291413.1:n.*1781G>A | |
| NM_139241.3:c.*1781G>A | NP_640334.2:n.*1781G>A | |
| XM_005253304.3:c.*1781G>A | XP_005253361.1:n.*1781G>A | |
| XM_005253307.2:c.*1781G>A | XP_005253364.1:n.*1781G>A | |
| XM_005253308.3:c.*1781G>A | XP_005253365.1:n.*1781G>A | |
| XM_005253309.1:c.*1781G>A | XP_005253366.1:n.*1781G>A | |
| XM_005253310.3:c.*1781G>A | XP_005253367.1:n.*1781G>A | |
| XM_011520554.1:c.*1781G>A | XP_011518856.1:n.*1781G>A | |
| XM_011520555.1:c.*1781G>A | XP_011518857.1:n.*1781G>A | |
| XM_011520556.1:c.*1781G>A | XP_011518858.1:n.*1781G>A | |
| XM_011520557.1:c.*1781G>A | XP_011518859.1:n.*1781G>A | |
| XM_011520558.1:c.*1781G>A | XP_011518860.1:n.*1781G>A | |
| XM_011520559.1:c.*1781G>A | XP_011518861.1:n.*1781G>A | |
| NM_001330373.1:c.*1781G>A | NP_001317302.1:n.*1781G>A | |
| NM_001330374.1:c.*1781G>A | NP_001317303.1:n.*1781G>A | |
| XM_005253304.4:c.*1781G>A | XP_005253361.1:n.*1781G>A | |
| XM_005253308.5:c.*1781G>A | XP_005253365.1:n.*1781G>A | |
| XM_005253310.4:c.*1781G>A | XP_005253367.1:n.*1781G>A | |
| XM_011520558.2:c.*1781G>A | XP_011518860.1:n.*1781G>A | |
| XM_011520559.3:c.*1781G>A | XP_011518861.1:n.*1781G>A | |
| XM_017018803.1:c.2713+1861G>A | XP_016874292.1:n.2713+1861G>A | |
| XM_017018805.1:c.*1781G>A | XP_016874294.1:n.*1781G>A | |
| XM_024448837.1:c.*1781G>A | XP_024304605.1:n.*1781G>A | |
| XM_024448838.1:c.*1781G>A | XP_024304606.1:n.*1781G>A | |
| XM_024448839.1:c.*1781G>A | XP_024304607.1:n.*1781G>A | |
| XM_024448840.1:c.*1781G>A | XP_024304608.1:n.*1781G>A | |
| NM_001370297.1:c.*1781G>A | NP_001357226.1:n.*1781G>A | |
| NM_001370298.1:c.*1781G>A | NP_001357227.1:n.*1781G>A | |
| NM_001304484.2:c.*1781G>A | NP_001291413.1:n.*1781G>A | |
| NM_001330373.2:c.*1781G>A | NP_001317302.1:n.*1781G>A | |
| NM_001330374.2:c.*1781G>A | NP_001317303.1:n.*1781G>A | |
| NM_001370298.3:c.*1781G>A MANE Select | NP_001357227.2:n.*1781G>A | |
| NM_001384126.1:c.2632+1861G>A | NP_001371055.1:n.2632+1861G>A | |
| NM_001384127.1:c.2221+1861G>A | NP_001371056.1:n.2221+1861G>A | |
| NM_001384128.1:c.2221+1861G>A | NP_001371057.1:n.2221+1861G>A | |
| NM_001384130.1:c.*1781G>A | NP_001371059.1:n.*1781G>A | |
| NM_001385118.1:c.*1781G>A | NP_001372047.1:n.*1781G>A |