Linked Data
ClinVar Variation Id:
308345
ClinVar RCV Id:
RCV000293762
dbSNP Id:
rs75320947
gnomAD v2:
12-32796807-A-C
gnomAD v3:
12-32643873-A-C
gnomAD v4:
12-32643873-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32643873A>C , CM000674.2:g.32643873A>C | GRCh38 |
| NC_000012.11:g.32796807A>C , CM000674.1:g.32796807A>C | GRCh37 |
| NC_000012.10:g.32688074A>C | NCBI36 |
| NG_008626.2:g.249345A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000427716.7:c.*3340A>C | ENSP00000394487.2:n.*3340A>C | |
| ENST00000531134.6:c.*3340A>C | ENSP00000431323.1:n.*3340A>C | |
| ENST00000534526.7:c.*3340A>C MANE Select | ENSP00000449273.1:n.*3340A>C | |
| ENST00000427716.6:c.*3340A>C | ENSP00000394487.2:n.*3340A>C | |
| ENST00000494977.1:c.2192-721A>C | ||
| NM_001304480.1:c.*3340A>C | NP_001291409.1:n.*3340A>C | |
| NM_001304481.1:c.*3340A>C | NP_001291410.1:n.*3340A>C | |
| NM_001304484.1:c.*3340A>C | NP_001291413.1:n.*3340A>C | |
| NM_139241.3:c.*3340A>C | NP_640334.2:n.*3340A>C | |
| XM_005253304.3:c.*3340A>C | XP_005253361.1:n.*3340A>C | |
| XM_005253307.2:c.*3340A>C | XP_005253364.1:n.*3340A>C | |
| XM_005253308.3:c.*3340A>C | XP_005253365.1:n.*3340A>C | |
| XM_005253309.1:c.*3340A>C | XP_005253366.1:n.*3340A>C | |
| XM_005253310.3:c.*3340A>C | XP_005253367.1:n.*3340A>C | |
| XM_011520554.1:c.*3340A>C | XP_011518856.1:n.*3340A>C | |
| XM_011520555.1:c.*3340A>C | XP_011518857.1:n.*3340A>C | |
| XM_011520556.1:c.*3340A>C | XP_011518858.1:n.*3340A>C | |
| XM_011520557.1:c.*3340A>C | XP_011518859.1:n.*3340A>C | |
| XM_011520558.1:c.*3340A>C | XP_011518860.1:n.*3340A>C | |
| XM_011520559.1:c.*3340A>C | XP_011518861.1:n.*3340A>C | |
| NM_001330373.1:c.*3340A>C | NP_001317302.1:n.*3340A>C | |
| NM_001330374.1:c.*3340A>C | NP_001317303.1:n.*3340A>C | |
| XM_005253304.4:c.*3340A>C | XP_005253361.1:n.*3340A>C | |
| XM_005253308.5:c.*3340A>C | XP_005253365.1:n.*3340A>C | |
| XM_005253310.4:c.*3340A>C | XP_005253367.1:n.*3340A>C | |
| XM_011520558.2:c.*3340A>C | XP_011518860.1:n.*3340A>C | |
| XM_011520559.3:c.*3340A>C | XP_011518861.1:n.*3340A>C | |
| XM_017018803.1:c.2714-721A>C | XP_016874292.1:n.2714-721A>C | |
| XM_017018805.1:c.*3340A>C | XP_016874294.1:n.*3340A>C | |
| XM_024448837.1:c.*3340A>C | XP_024304605.1:n.*3340A>C | |
| XM_024448838.1:c.*3340A>C | XP_024304606.1:n.*3340A>C | |
| XM_024448839.1:c.*3340A>C | XP_024304607.1:n.*3340A>C | |
| XM_024448840.1:c.*3340A>C | XP_024304608.1:n.*3340A>C | |
| NM_001370297.1:c.*3340A>C | NP_001357226.1:n.*3340A>C | |
| NM_001370298.1:c.*3340A>C | NP_001357227.1:n.*3340A>C | |
| NM_001304484.2:c.*3340A>C | NP_001291413.1:n.*3340A>C | |
| NM_001330373.2:c.*3340A>C | NP_001317302.1:n.*3340A>C | |
| NM_001330374.2:c.*3340A>C | NP_001317303.1:n.*3340A>C | |
| NM_001370298.3:c.*3340A>C MANE Select | NP_001357227.2:n.*3340A>C | |
| NM_001384126.1:c.2633-721A>C | NP_001371055.1:n.2633-721A>C | |
| NM_001384127.1:c.2222-721A>C | NP_001371056.1:n.2222-721A>C | |
| NM_001384128.1:c.2222-721A>C | NP_001371057.1:n.2222-721A>C | |
| NM_001384130.1:c.*3340A>C | NP_001371059.1:n.*3340A>C | |
| NM_001385118.1:c.*3340A>C | NP_001372047.1:n.*3340A>C |