Linked Data
ClinVar Variation Id:
2909137
ClinVar RCV Id:
RCV003732086
dbSNP Id:
rs1394768930
gnomAD v3:
2-240875916-G-GC
gnomAD v4:
2-240875916-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240875921dup , CM000664.2:g.240875921dup | GRCh38 |
| NC_000002.11:g.241815338dup , CM000664.1:g.241815338dup | GRCh37 |
| NC_000002.10:g.241464011dup | NCBI36 |
| NG_008005.1:g.12177dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.777-14dup MANE Select | ENSP00000302620.3:n.777-14dup | |
| ENST00000307503.3:c.777-14dup | ENSP00000302620.3:n.777-14dup | |
| ENST00000476698.1:n.429-14dup | ||
| NM_000030.2:c.777-14dup | NP_000021.1:n.777-14dup | |
| NM_000030.3:c.777-14dup MANE Select | NP_000021.1:n.777-14dup |