Linked Data
ClinVar Variation Id:
783362
ClinVar RCV Id:
RCV000964897
dbSNP Id:
rs144876495
ExAC:
2:228767708 TG / T
gnomAD v2:
2-228767708-TG-T
gnomAD v3:
2-227902992-TG-T
gnomAD v4:
2-227902992-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227902993del , CM000664.2:g.227902993del | GRCh38 |
| NC_000002.11:g.228767709del , CM000664.1:g.228767709del | GRCh37 |
| NC_000002.10:g.228475953del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309931.3:c.541-9del MANE Select | ENSP00000311899.2:n.541-9del | |
| ENST00000309931.2:c.541-9del | ENSP00000311899.2:n.541-9del | |
| ENST00000373666.6:c.541-9del | ENSP00000362770.2:n.541-9del | |
| ENST00000454999.5:c.*482-9del | ENSP00000403670.1:n.*482-9del | |
| NM_178821.1:c.541-9del | NP_849143.1:n.541-9del | |
| XM_011510755.1:c.496-9del | XP_011509057.1:n.496-9del | |
| NM_001330004.1:c.496-9del | NP_001316933.1:n.496-9del | |
| NM_178821.2:c.541-9del | NP_849143.1:n.541-9del | |
| NR_138459.1:n.855-9del | ||
| XM_017003490.1:c.-48-9del | XP_016858979.1:n.-48-9del | |
| NM_178821.3:c.541-9del MANE Select | NP_849143.1:n.541-9del | |
| NM_001330004.2:c.496-9del | NP_001316933.1:n.496-9del | |
| NR_138459.2:n.600-9del |