Linked Data
ClinVar Variation Id:
6417
dbSNP Id:
rs121908887
ExAC:
5:131726530 T / TA
gnomAD v2:
5-131726530-T-TA
gnomAD v4:
5-132390838-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132390839dup , CM000667.2:g.132390839dup | GRCh38 |
| NC_000005.9:g.131726531dup , CM000667.1:g.131726531dup | GRCh37 |
| NC_000005.8:g.131754430dup | NCBI36 |
| NG_008982.1:g.26131dup | |
| NG_008982.2:g.26136dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.1043dup | ENSP00000388838.2:p.Tyr348Ter | |
| ENST00000435065.7:c.1274dup | ENSP00000402760.2:p.Tyr425Ter | |
| ENST00000448810.6:c.*54dup | ENSP00000401860.2:n.*54dup | |
| ENST00000685543.1:n.1343dup | ||
| ENST00000686757.1:c.*366dup | ENSP00000510721.1:n.*366dup | |
| ENST00000687740.1:n.3887dup | ||
| ENST00000688151.1:n.2512dup | ||
| ENST00000689271.1:c.1049dup | ENSP00000510797.1:p.Tyr350Ter | |
| ENST00000690900.1:c.*366dup | ENSP00000510703.1:n.*366dup | |
| ENST00000692212.1:n.2814dup | ||
| ENST00000692355.1:c.455dup | ||
| ENST00000692413.1:c.1184dup | ENSP00000509374.1:p.Tyr395Ter | |
| ENST00000692825.1:c.1270dup | ENSP00000509447.1:n.1270dup | |
| ENST00000693308.1:c.1250dup | ENSP00000509770.1:p.Tyr417Ter | |
| ENST00000693763.1:n.2362dup | ||
| ENST00000245407.8:c.1202dup MANE Select | ENSP00000245407.3:p.Tyr401Ter | |
| ENST00000245407.7:c.1202dup | ENSP00000245407.3:p.Tyr401Ter | |
| ENST00000435065.6:c.1274dup | ENSP00000402760.2:p.Tyr425Ter | |
| ENST00000447841.5:c.112-1594dup | ||
| ENST00000448810.5:c.464dup | ||
| ENST00000461013.5:n.8624dup | ||
| ENST00000475308.1:n.1880dup | ||
| ENST00000479605.5:n.305dup | ||
| NM_001308122.1:c.1274dup | NP_001295051.1:p.Tyr425Ter | |
| NM_003060.3:c.1202dup | NP_003051.1:p.Tyr401Ter | |
| XM_011543590.1:c.584dup | XP_011541892.1:p.Tyr195Ter | |
| XR_427718.1:n.1562dup | ||
| XR_948290.1:n.1394-1594dup | ||
| XR_948291.1:n.1556dup | ||
| XM_011543590.2:c.584dup | XP_011541892.1:p.Tyr195Ter | |
| XM_017009778.2:c.674dup | XP_016865267.1:p.Tyr225Ter | |
| XR_001742215.1:n.1457dup | ||
| XR_001742216.1:n.1476dup | ||
| XR_427718.2:n.1562dup | ||
| XR_948290.2:n.1394-1594dup | ||
| XR_948291.2:n.1556dup | ||
| NM_003060.4:c.1202dup MANE Select | NP_003051.1:p.Tyr401Ter | |
| NM_001308122.2:c.1274dup | NP_001295051.1:p.Tyr425Ter |