Linked Data
ClinVar Variation Id:
1206
ClinVar RCV Id:
RCV000001265
dbSNP Id:
rs763178849
ExAC:
10:82034897 G / GC
gnomAD v2:
10-82034897-G-GC
gnomAD v4:
10-80275141-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80275147dup , CM000672.2:g.80275147dup | GRCh38 |
| NC_000010.10:g.82034903dup , CM000672.1:g.82034903dup | GRCh37 |
| NC_000010.9:g.82024883dup | NCBI36 |
| NG_008083.1:g.19537dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.826dup MANE Select | ENSP00000361287.3:p.Ala276GlyfsTer? | |
| ENST00000372213.7:c.826dup | ENSP00000361287.3:p.Ala276GlyfsTer? | |
| ENST00000480845.1:n.58dup | ||
| ENST00000485270.5:n.338dup | ||
| NM_000429.2:c.826dup | NP_000420.1:p.Ala276GlyfsTer? | |
| XM_005269842.3:c.826dup | XP_005269899.1:p.Ala276GlyfsTer? | |
| XM_005269843.3:c.703dup | XP_005269900.1:p.Ala235GlyfsTer? | |
| NM_000429.3:c.826dup MANE Select | NP_000420.1:p.Ala276GlyfsTer? |