Linked Data
ClinVar Variation Id:
235831
ClinVar RCV Id:
RCV000224193
dbSNP Id:
rs878853128
PubMed:
PMID:25683120
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.101083801T>G , CM000675.2:g.101083801T>G | GRCh38 |
| NC_000013.10:g.101736152T>G , CM000675.1:g.101736152T>G | GRCh37 |
| NC_000013.9:g.100534153T>G | NCBI36 |
| NG_053176.1:g.338406A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251127.11:c.3493A>C MANE Select | ENSP00000251127.6:p.Thr1165Pro | |
| ENST00000648359.1:c.3493A>C | ENSP00000497465.1:p.Thr1165Pro | |
| ENST00000675150.1:c.3214A>C | ENSP00000502680.1:p.Thr1072Pro | |
| ENST00000675332.1:c.3580A>C | ENSP00000501955.1:p.Thr1194Pro | |
| ENST00000676315.1:c.3406A>C | ENSP00000501603.1:p.Thr1136Pro | |
| ENST00000251127.10:c.3493A>C | ENSP00000251127.6:p.Thr1165Pro | |
| NM_052867.2:c.3493A>C | NP_443099.1:p.Thr1165Pro | |
| XM_011521067.1:c.3550A>C | XP_011519369.1:p.Thr1184Pro | |
| XM_011521068.1:c.3493A>C | XP_011519370.1:p.Thr1165Pro | |
| XM_011521069.1:c.3463A>C | XP_011519371.1:p.Thr1155Pro | |
| XM_011521070.1:c.3271A>C | XP_011519372.1:p.Thr1091Pro | |
| NM_001350748.1:c.3580A>C | NP_001337677.1:p.Thr1194Pro | |
| NM_001350749.1:c.3493A>C | NP_001337678.1:p.Thr1165Pro | |
| NM_001350750.1:c.3406A>C | NP_001337679.1:p.Thr1136Pro | |
| NM_001350751.1:c.3406A>C | NP_001337680.1:p.Thr1136Pro | |
| NM_052867.3:c.3493A>C | NP_443099.1:p.Thr1165Pro | |
| XM_011521067.2:c.3550A>C | XP_011519369.1:p.Thr1184Pro | |
| XM_011521069.2:c.3463A>C | XP_011519371.1:p.Thr1155Pro | |
| XM_017020536.2:c.3046A>C | XP_016876025.1:p.Thr1016Pro | |
| XM_017020537.1:c.2728A>C | XP_016876026.1:p.Thr910Pro | |
| XM_024449336.1:c.3637A>C | XP_024305104.1:p.Thr1213Pro | |
| NM_052867.4:c.3493A>C MANE Select | NP_443099.1:p.Thr1165Pro | |
| NM_001350748.2:c.3580A>C | NP_001337677.1:p.Thr1194Pro | |
| NM_001350749.2:c.3493A>C | NP_001337678.1:p.Thr1165Pro | |
| NM_001350750.2:c.3406A>C | NP_001337679.1:p.Thr1136Pro | |
| NM_001350751.2:c.3406A>C | NP_001337680.1:p.Thr1136Pro |