Linked Data
dbSNP Id:
rs772301815
ExAC:
3:140682046 A / AT
gnomAD v2:
3-140682046-A-AT
gnomAD v4:
3-140963204-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.140963205dup , CM000665.2:g.140963205dup | GRCh38 |
| NC_000003.11:g.140682047dup , CM000665.1:g.140682047dup | GRCh37 |
| NC_000003.10:g.142164737dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324194.12:c.363dup MANE Select | ENSP00000320688.6:p.Met122TyrfsTer28 | |
| ENST00000648615.1:c.363dup | ENSP00000497436.1:p.Met122TyrfsTer? | |
| ENST00000324194.10:c.363dup | ENSP00000320688.6:p.Met122TyrfsTer28 | |
| ENST00000393015.8:n.565dup | ||
| ENST00000446041.6:c.363dup | ENSP00000401938.2:p.Met122TyrfsTer28 | |
| ENST00000453248.6:c.285dup | ENSP00000391521.2:p.Met96TyrfsTer28 | |
| ENST00000502594.5:c.363dup | ENSP00000423319.1:p.Met122TyrfsTer? | |
| ENST00000507429.5:c.363dup | ENSP00000421470.1:p.Met122TyrfsTer21 | |
| ENST00000512023.5:c.213dup | ENSP00000424505.1:p.Met72TyrfsTer22 | |
| ENST00000512506.5:c.213dup | ENSP00000423711.1:p.Met72TyrfsTer? | |
| ENST00000513887.5:c.135dup | ENSP00000422265.1:p.Met46TyrfsTer? | |
| ENST00000515813.1:n.472dup | ||
| ENST00000631654.1:c.363dup | ENSP00000487839.1:p.Met122TyrfsTer26 | |
| NM_001104647.1:c.363dup | NP_001098117.1:p.Met122TyrfsTer28 | |
| NM_018155.2:c.363dup | NP_060625.2:p.Met122TyrfsTer28 | |
| XM_006713685.2:c.-744dup | XP_006713748.1:n.-744dup | |
| XM_011512951.1:c.459dup | XP_011511253.1:p.Met154TyrfsTer28 | |
| XM_011512952.1:c.-92dup | XP_011511254.1:n.-92dup | |
| XM_011512953.1:c.459dup | XP_011511255.1:p.Met154TyrfsTer29 | |
| XR_924150.1:n.652dup | ||
| XR_924151.1:n.652dup | ||
| XR_924152.1:n.652dup | ||
| XR_924153.1:n.652dup | ||
| XR_924154.1:n.652dup | ||
| XR_924155.1:n.652dup | ||
| XR_924156.1:n.652dup | ||
| XR_924157.1:n.652dup | ||
| NM_001104647.3:c.363dup MANE Select | NP_001098117.1:p.Met122TyrfsTer28 | |
| NM_018155.3:c.363dup | NP_060625.2:p.Met122TyrfsTer28 |