Linked Data
ClinVar Variation Id:
3016150
ClinVar RCV Id:
RCV003876301
dbSNP Id:
rs753663291
ExAC:
16:81399092 G / GA
gnomAD v2:
16-81399092-G-GA
gnomAD v3:
16-81365487-G-GA
gnomAD v4:
16-81365487-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81365489dup , CM000678.2:g.81365489dup | GRCh38 |
| NC_000016.9:g.81399094dup , CM000678.1:g.81399094dup | GRCh37 |
| NC_000016.8:g.79956595dup | NCBI36 |
| NG_009007.1:g.55524dup , LRG_242:g.55524dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648349.2:c.*1210+11dup | ENSP00000498114.1:n.*1210+11dup | |
| ENST00000648994.2:c.1502+11dup MANE Select | ENSP00000497351.1:n.1502+11dup | |
| ENST00000650388.1:c.1036+11dup | ENSP00000498081.1:n.1036+11dup | |
| ENST00000567335.1:n.60+11dup | ||
| ENST00000568107.2:c.1502+11dup | ENSP00000476795.1:n.1502+11dup | |
| NM_022041.3:c.1502+11dup , LRG_242t1:c.1502+11dup | NP_071324.1:n.1502+11dup | |
| XM_017023734.1:c.863+11dup | XP_016879223.1:n.863+11dup | |
| NM_001377486.1:c.863+11dup | NP_001364415.1:n.863+11dup | |
| NM_022041.4:c.1502+11dup MANE Select | NP_071324.1:n.1502+11dup |