Linked Data
ClinVar Variation Id:
371479
ClinVar RCV Id:
RCV000411969
dbSNP Id:
rs1057517306
PubMed:
PMID:15523054
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132393680dup , CM000667.2:g.132393680dup | GRCh38 |
| NC_000005.9:g.131729372dup , CM000667.1:g.131729372dup | GRCh37 |
| NC_000005.8:g.131757271dup | NCBI36 |
| NG_008982.1:g.28972dup | |
| NG_008982.2:g.28977dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415928.6:c.1292-505dup | ENSP00000388838.2:n.1292-505dup | |
| ENST00000435065.7:c.1527dup | ENSP00000402760.2:p.Tyr510LeufsTer? | |
| ENST00000448810.6:c.*307dup | ENSP00000401860.2:n.*307dup | |
| ENST00000685543.1:n.1596dup | ||
| ENST00000686757.1:c.*619dup | ENSP00000510721.1:n.*619dup | |
| ENST00000686868.1:n.447dup | ||
| ENST00000687740.1:n.4140dup | ||
| ENST00000688151.1:n.2765dup | ||
| ENST00000689271.1:c.1302dup | ENSP00000510797.1:p.Tyr435LeufsTer? | |
| ENST00000690900.1:c.*619dup | ENSP00000510703.1:n.*619dup | |
| ENST00000692212.1:n.4595dup | ||
| ENST00000692355.1:c.708dup | ||
| ENST00000692413.1:c.1437dup | ENSP00000509374.1:p.Tyr480LeufsTer? | |
| ENST00000692825.1:c.1523dup | ENSP00000509447.1:n.1523dup | |
| ENST00000693308.1:c.1503dup | ENSP00000509770.1:p.Tyr502LeufsTer? | |
| ENST00000693763.1:n.2615dup | ||
| ENST00000245407.8:c.1455dup MANE Select | ENSP00000245407.3:p.Tyr486LeufsTer? | |
| ENST00000245407.7:c.1455dup | ENSP00000245407.3:p.Tyr486LeufsTer? | |
| ENST00000435065.6:c.1527dup | ENSP00000402760.2:p.Tyr510LeufsTer? | |
| ENST00000447841.5:c.299dup | ||
| ENST00000448810.5:c.717dup | ||
| ENST00000461013.5:n.8877dup | ||
| ENST00000475308.1:n.2133dup | ||
| ENST00000479605.5:n.558dup | ||
| NM_001308122.1:c.1527dup | NP_001295051.1:p.Tyr510LeufsTer? | |
| NM_003060.3:c.1455dup | NP_003051.1:p.Tyr486LeufsTer? | |
| XM_011543590.1:c.837dup | XP_011541892.1:p.Tyr280LeufsTer? | |
| XR_948290.1:n.1581dup | ||
| XM_011543590.2:c.837dup | XP_011541892.1:p.Tyr280LeufsTer? | |
| XM_017009778.2:c.927dup | XP_016865267.1:p.Tyr310LeufsTer? | |
| XR_001742215.1:n.1710dup | ||
| XR_001742216.1:n.1729dup | ||
| XR_427718.2:n.1815dup | ||
| XR_948290.2:n.1581dup | ||
| XR_948291.2:n.1809dup | ||
| NM_003060.4:c.1455dup MANE Select | NP_003051.1:p.Tyr486LeufsTer? | |
| NM_001308122.2:c.1527dup | NP_001295051.1:p.Tyr510LeufsTer? |