Linked Data
ClinVar Variation Id:
503865
ClinVar RCV Id:
RCV000598947
dbSNP Id:
rs756789060
ExAC:
12:66638788 C / CT
gnomAD v2:
12-66638788-C-CT
gnomAD v4:
12-66245008-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.66245009dup , CM000674.2:g.66245009dup | GRCh38 |
| NC_000012.11:g.66638789dup , CM000674.1:g.66638789dup | GRCh37 |
| NC_000012.10:g.64925056dup | NCBI36 |
| NG_021194.1:g.60812dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261233.9:c.1148dup MANE Select | ENSP00000261233.4:p.Arg384AlafsTer5 | |
| ENST00000261233.8:c.1148dup | ENSP00000261233.4:p.Arg384AlafsTer5 | |
| ENST00000457197.2:c.965dup | ENSP00000409852.2:p.Arg323AlafsTer5 | |
| NM_001142523.1:c.965dup | NP_001135995.1:p.Arg323AlafsTer5 | |
| NM_007199.2:c.1148dup | NP_009130.2:p.Arg384AlafsTer5 | |
| NM_001142523.2:c.965dup | NP_001135995.1:p.Arg323AlafsTer5 | |
| NM_007199.3:c.1148dup MANE Select | NP_009130.2:p.Arg384AlafsTer5 |