Linked Data
dbSNP Id:
rs750701881
ExAC:
6:158535967 G / GT
gnomAD v2:
6-158535967-G-GT
gnomAD v4:
6-158114935-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158114936dup , CM000668.2:g.158114936dup | GRCh38 |
| NC_000006.11:g.158535968dup , CM000668.1:g.158535968dup | GRCh37 |
| NC_000006.10:g.158455956dup | NCBI36 |
| NG_032889.1:g.58345dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435180.6:c.749dup | ENSP00000391168.2:n.749dup | |
| ENST00000607071.6:c.*1257dup | ENSP00000475855.1:n.*1257dup | |
| ENST00000642244.1:c.1447dup | ENSP00000493554.1:p.Thr483AsnfsTer19 | |
| ENST00000642903.1:c.1537dup | ENSP00000493559.1:p.Thr513AsnfsTer19 | |
| ENST00000644972.1:c.1537dup | ENSP00000496451.1:p.Thr513AsnfsTer19 | |
| ENST00000645077.1:c.*1158dup | ENSP00000496113.1:n.*1158dup | |
| ENST00000645172.1:c.*1239dup | ENSP00000495367.1:n.*1239dup | |
| ENST00000646190.1:n.2868dup | ||
| ENST00000646208.1:c.1273dup | ENSP00000493723.1:p.Thr425AsnfsTer19 | |
| ENST00000646410.1:c.1408dup | ENSP00000494205.1:p.Thr470AsnfsTer19 | |
| ENST00000646562.1:c.*1371dup | ENSP00000496087.1:n.*1371dup | |
| ENST00000647468.2:c.1537dup MANE Select | ENSP00000496731.1:p.Thr513AsnfsTer19 | |
| ENST00000648111.1:c.*1225dup | ENSP00000497275.1:n.*1225dup | |
| ENST00000367101.5:c.1581dup | ENSP00000356068.1:p.Arg528ThrfsTer? | |
| ENST00000367104.7:c.1537dup | ENSP00000356071.3:p.Thr513AsnfsTer19 | |
| ENST00000435180.5:c.262dup | ENSP00000391168.1:p.Thr88AsnfsTer19 | |
| ENST00000606965.5:c.*98dup | ENSP00000475808.1:n.*98dup | |
| ENST00000607071.5:c.*1471dup | ENSP00000475855.1:n.*1471dup | |
| ENST00000607742.5:c.*2815dup | ENSP00000475523.1:n.*2815dup | |
| NM_032861.3:c.1537dup | NP_116250.3:p.Thr513AsnfsTer19 | |
| NR_073096.1:n.1470dup | ||
| XM_006715586.1:c.1327dup | XP_006715649.1:p.Thr443AsnfsTer19 | |
| XM_011536196.1:c.1516dup | XP_011534498.1:p.Thr506AsnfsTer19 | |
| XM_011536197.1:c.1423dup | XP_011534499.1:p.Thr475AsnfsTer19 | |
| XM_011536198.1:c.1327dup | XP_011534500.1:p.Thr443AsnfsTer19 | |
| XM_006715586.3:c.1327dup | XP_006715649.1:p.Thr443AsnfsTer19 | |
| XM_011536196.3:c.1516dup | XP_011534498.1:p.Thr506AsnfsTer19 | |
| XM_011536198.3:c.1327dup | XP_011534500.1:p.Thr443AsnfsTer19 | |
| XM_024446573.1:c.1537dup | XP_024302341.1:p.Thr513AsnfsTer19 | |
| XR_001743697.2:n.1568dup | ||
| XR_942606.2:n.1619dup | ||
| NM_032861.4:c.1537dup MANE Select | NP_116250.3:p.Thr513AsnfsTer19 | |
| NR_073096.2:n.1452dup |