Linked Data
dbSNP Id:
rs777363158
ExAC:
1:215955352 C / CT
gnomAD v2:
1-215955352-C-CT
gnomAD v3:
1-215782010-C-CT
gnomAD v4:
1-215782010-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215782014dup , CM000663.2:g.215782014dup | GRCh38 |
| NC_000001.10:g.215955356dup , CM000663.1:g.215955356dup | GRCh37 |
| NC_000001.9:g.214021979dup | NCBI36 |
| NG_009497.1:g.646386dup | |
| NG_009497.2:g.646438dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.10740+31dup MANE Select | ENSP00000305941.3:n.10740+31dup | |
| ENST00000674083.1:c.10740+31dup | ENSP00000501296.1:n.10740+31dup | |
| ENST00000307340.7:c.10740+31dup | ENSP00000305941.3:n.10740+31dup | |
| NM_206933.2:c.10740+31dup | NP_996816.2:n.10740+31dup | |
| NM_206933.3:c.10740+31dup | NP_996816.2:n.10740+31dup | |
| NM_206933.4:c.10740+31dup MANE Select | NP_996816.3:n.10740+31dup |