Linked Data
ClinVar Variation Id:
42156
ClinVar RCV Id:
RCV000034983
dbSNP Id:
rs386134154
PubMed:
PMID:20301666
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149177941dup , CM000665.2:g.149177941dup | GRCh38 |
| NC_000003.11:g.148895728dup , CM000665.1:g.148895728dup | GRCh37 |
| NC_000003.10:g.150378418dup | NCBI36 |
| NG_011800.1:g.49105dup | |
| NG_011800.2:g.49105dup | |
| NG_011800.3:g.49105dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264613.11:c.2917dup MANE Select | ENSP00000264613.6:p.Thr973AsnfsTer7 | |
| ENST00000264613.10:c.2917dup | ENSP00000264613.6:p.Thr973AsnfsTer7 | |
| ENST00000460674.5:n.834dup | ||
| ENST00000463556.5:n.439dup | ||
| ENST00000479771.5:c.322dup | ENSP00000420367.1:p.Thr108AsnfsTer7 | |
| ENST00000481169.5:c.2704dup | ENSP00000418773.1:p.Thr902AsnfsTer7 | |
| ENST00000490639.5:n.2949dup | ||
| ENST00000494544.1:c.2266dup | ENSP00000420545.1:p.Thr756AsnfsTer7 | |
| NM_000096.3:c.2917dup | NP_000087.1:p.Thr973AsnfsTer7 | |
| NR_046371.1:n.2957dup | ||
| XM_006713499.2:c.2917dup | XP_006713562.1:p.Thr973AsnfsTer7 | |
| XM_006713500.2:c.2917dup | XP_006713563.1:p.Thr973AsnfsTer7 | |
| XM_006713501.2:c.2917dup | XP_006713564.1:p.Thr973AsnfsTer7 | |
| XM_011512435.1:c.2917dup | XP_011510737.1:p.Thr973AsnfsTer7 | |
| XR_427361.2:n.3175dup | ||
| XM_006713499.3:c.2917dup | XP_006713562.1:p.Thr973AsnfsTer7 | |
| XM_006713500.4:c.2917dup | XP_006713563.1:p.Thr973AsnfsTer7 | |
| XM_006713501.3:c.2917dup | XP_006713564.1:p.Thr973AsnfsTer7 | |
| XM_011512435.2:c.2917dup | XP_011510737.1:p.Thr973AsnfsTer7 | |
| XM_017005734.2:c.2917dup | XP_016861223.1:p.Thr973AsnfsTer7 | |
| XM_017005735.2:c.2917dup | XP_016861224.1:p.Thr973AsnfsTer7 | |
| XR_427361.3:n.3133dup | ||
| NM_000096.4:c.2917dup MANE Select | NP_000087.2:p.Thr973AsnfsTer7 | |
| NR_046371.2:n.2741dup |