Linked Data
ClinVar Variation Id:
92288
dbSNP Id:
rs398123090
ExAC:
17:7124984 T / C
gnomAD v2:
17-7124984-T-C
gnomAD v3:
17-7221665-T-C
gnomAD v4:
17-7221665-T-C
PubMed:
PMID:23891399
ERepo:
CA220216/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221665T>C , CM000679.2:g.7221665T>C | GRCh38 |
| NC_000017.10:g.7124984T>C , CM000679.1:g.7124984T>C | GRCh37 |
| NC_000017.9:g.7065708T>C | NCBI36 |
| NG_007975.1:g.6832T>C | |
| NG_008391.2:g.3386A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.605T>C MANE Select | ENSP00000349297.5:p.Leu202Pro | |
| ENST00000322910.9:c.*560T>C | ENSP00000325395.5:n.*560T>C | |
| ENST00000350303.9:c.539T>C | ENSP00000344152.5:p.Leu180Pro | |
| ENST00000356839.9:c.605T>C | ENSP00000349297.5:p.Leu202Pro | |
| ENST00000543245.6:c.674T>C | ENSP00000438689.2:p.Leu225Pro | |
| ENST00000577191.5:n.682T>C | ||
| ENST00000577857.5:n.421T>C | ||
| ENST00000579286.5:n.786T>C | ||
| ENST00000579886.2:c.443T>C | ENSP00000463246.1:p.Leu148Pro | |
| ENST00000580365.1:n.336T>C | ||
| ENST00000581378.5:c.323T>C | ||
| ENST00000581562.5:n.525-287T>C | ||
| ENST00000583312.5:c.605T>C | ENSP00000467920.1:p.Leu202Pro | |
| ENST00000583760.1:n.387T>C | ||
| NM_000018.3:c.605T>C | NP_000009.1:p.Leu202Pro | |
| NM_001033859.2:c.539T>C | NP_001029031.1:p.Leu180Pro | |
| NM_001270447.1:c.674T>C | NP_001257376.1:p.Leu225Pro | |
| NM_001270448.1:c.377T>C | NP_001257377.1:p.Leu126Pro | |
| XM_006721516.2:c.605T>C | XP_006721579.2:p.Leu202Pro | |
| XM_011523829.1:c.605T>C | XP_011522131.1:p.Leu202Pro | |
| XM_011523830.1:c.605T>C | XP_011522132.1:p.Leu202Pro | |
| XR_934021.1:n.712T>C | ||
| XR_934022.1:n.712T>C | ||
| XR_934023.1:n.712T>C | ||
| XM_006721516.3:c.605T>C | XP_006721579.2:p.Leu202Pro | |
| XM_011523829.2:c.605T>C | XP_011522131.1:p.Leu202Pro | |
| XM_011523830.2:c.605T>C | XP_011522132.1:p.Leu202Pro | |
| XM_024450741.1:c.605T>C | XP_024306509.1:p.Leu202Pro | |
| XR_934021.2:n.664T>C | ||
| XR_934022.2:n.664T>C | ||
| XR_934023.2:n.664T>C | ||
| NM_000018.4:c.605T>C MANE Select | NP_000009.1:p.Leu202Pro | |
| NM_001033859.3:c.539T>C | NP_001029031.1:p.Leu180Pro | |
| NM_001270447.2:c.674T>C | NP_001257376.1:p.Leu225Pro | |
| NM_001270448.2:c.377T>C | NP_001257377.1:p.Leu126Pro |