Linked Data
dbSNP Id:
rs1158992818
gnomAD v2:
1-201044571-T-TC
gnomAD v3:
1-201075443-T-TC
gnomAD v4:
1-201075443-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201075448dup , CM000663.2:g.201075448dup | GRCh38 |
| NC_000001.10:g.201044576dup , CM000663.1:g.201044576dup | GRCh37 |
| NC_000001.9:g.199311199dup | NCBI36 |
| NG_009816.1:g.42123dup | |
| NG_009816.2:g.42123dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362061.4:c.1948+51dup MANE Select | ENSP00000355192.3:n.1948+51dup | |
| ENST00000679417.1:c.*1111+51dup | ENSP00000506706.1:n.*1111+51dup | |
| ENST00000680059.1:c.1948+51dup | ENSP00000504944.1:n.1948+51dup | |
| ENST00000681078.1:c.1948+51dup | ENSP00000506645.1:n.1948+51dup | |
| ENST00000681190.1:c.1948+51dup | ENSP00000506428.1:n.1948+51dup | |
| ENST00000681874.1:c.1948+51dup | ENSP00000505162.1:n.1948+51dup | |
| ENST00000362061.3:c.1948+51dup | ENSP00000355192.3:n.1948+51dup | |
| ENST00000367338.7:c.1948+51dup | ENSP00000356307.3:n.1948+51dup | |
| NM_000069.2:c.1948+51dup | NP_000060.2:n.1948+51dup | |
| XM_005245478.2:c.1948+51dup | XP_005245535.1:n.1948+51dup | |
| XM_005245478.3:c.1948+51dup | XP_005245535.1:n.1948+51dup | |
| NM_000069.3:c.1948+51dup MANE Select | NP_000060.2:n.1948+51dup |