Linked Data
dbSNP Id:
rs755392088
ExAC:
1:207785178 C / CT
gnomAD v2:
1-207785178-C-CT
gnomAD v4:
1-207611833-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.207611834dup , CM000663.2:g.207611834dup | GRCh38 |
| NC_000001.10:g.207785179dup , CM000663.1:g.207785179dup | GRCh37 |
| NC_000001.9:g.205851802dup | NCBI36 |
| NG_007481.1:g.120707dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367049.9:c.6453dup MANE Select | ENSP00000356016.4:p.Glu2152Ter | |
| ENST00000367051.6:c.5103dup | ENSP00000356018.1:p.Glu1702Ter | |
| ENST00000367052.6:c.5103dup | ENSP00000356019.1:p.Glu1702Ter | |
| ENST00000367053.6:c.5103dup | ENSP00000356020.1:p.Glu1702Ter | |
| ENST00000400960.7:c.5103dup | ENSP00000383744.2:p.Glu1702Ter | |
| ENST00000367049.8:c.6453dup | ENSP00000356016.4:p.Glu2152Ter | |
| ENST00000367051.5:c.5103dup | ENSP00000356018.1:p.Glu1702Ter | |
| ENST00000367052.5:c.5103dup | ENSP00000356019.1:p.Glu1702Ter | |
| ENST00000367053.5:c.5103dup | ENSP00000356020.1:p.Glu1702Ter | |
| ENST00000400960.6:c.5103dup | ENSP00000383744.2:p.Glu1702Ter | |
| ENST00000529814.1:c.1180-4741dup | ||
| NM_000573.3:c.5103dup | NP_000564.2:p.Glu1702Ter | |
| NM_000651.4:c.6453dup | NP_000642.3:p.Glu2152Ter | |
| XM_006711166.2:c.6468dup | XP_006711229.1:p.Glu2157Ter | |
| XM_011509205.1:c.6468dup | XP_011507507.1:p.Glu2157Ter | |
| NM_000651.5:c.6453dup | NP_000642.3:p.Glu2152Ter | |
| XM_024453287.1:c.5118dup | XP_024309055.1:p.Glu1707Ter | |
| NM_000573.4:c.5103dup | NP_000564.2:p.Glu1702Ter | |
| NM_000651.6:c.6453dup MANE Select | NP_000642.3:p.Glu2152Ter |