Linked Data
ClinVar Variation Id:
337203
ClinVar RCV Id:
RCV000399066
dbSNP Id:
rs10700825
gnomAD v2:
2-85773654-C-CTG
gnomAD v3:
2-85546531-C-CTG
gnomAD v4:
2-85546531-C-CTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85546532_85546533dup , CM000664.2:g.85546532_85546533dup | GRCh38 |
| NC_000002.11:g.85773655_85773656dup , CM000664.1:g.85773655_85773656dup | GRCh37 |
| NC_000002.10:g.85627166_85627167dup | NCBI36 |
| NG_011811.2:g.20002_20003dup | |
| NG_029183.1:g.12555_12556dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233838.9:c.*3401_*3402dup MANE Select | ENSP00000233838.3:n.*3401_*3402dup | |
| ENST00000233838.8:c.*3401_*3402dup | ENSP00000233838.3:n.*3401_*3402dup | |
| NM_000821.5:c.*3401_*3402dup | NP_000812.2:n.*3401_*3402dup | |
| NM_000821.6:c.*3401_*3402dup | NP_000812.2:n.*3401_*3402dup | |
| NM_001142269.2:c.*3401_*3402dup | NP_001135741.1:n.*3401_*3402dup | |
| NM_001142269.3:c.*3401_*3402dup | NP_001135741.1:n.*3401_*3402dup | |
| NM_000821.7:c.*3401_*3402dup MANE Select | NP_000812.2:n.*3401_*3402dup | |
| NM_001142269.4:c.*3401_*3402dup | NP_001135741.1:n.*3401_*3402dup |