Linked Data
ClinVar Variation Id:
38798
dbSNP Id:
rs28934585
ExAC:
17:7123838 C / T
gnomAD v2:
17-7123838-C-T
gnomAD v3:
17-7220519-C-T
gnomAD v4:
17-7220519-C-T
ERepo:
CA285292/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7220519C>T , CM000679.2:g.7220519C>T | GRCh38 |
| NC_000017.10:g.7123838C>T , CM000679.1:g.7123838C>T | GRCh37 |
| NC_000017.9:g.7064562C>T | NCBI36 |
| NG_007975.1:g.5686C>T | |
| NG_008391.2:g.4532G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.194C>T MANE Select | ENSP00000349297.5:p.Pro65Leu | |
| ENST00000322910.9:c.*149C>T | ENSP00000325395.5:n.*149C>T | |
| ENST00000350303.9:c.139-85C>T | ENSP00000344152.5:n.139-85C>T | |
| ENST00000356839.9:c.194C>T | ENSP00000349297.5:p.Pro65Leu | |
| ENST00000543245.6:c.263C>T | ENSP00000438689.2:p.Pro88Leu | |
| ENST00000577191.5:n.271C>T | ||
| ENST00000577433.5:n.328C>T | ||
| ENST00000577857.5:n.229-247C>T | ||
| ENST00000578269.5:n.567C>T | ||
| ENST00000578421.1:n.328C>T | ||
| ENST00000579286.5:n.301C>T | ||
| ENST00000579886.2:c.194C>T | ENSP00000463246.1:p.Pro65Leu | |
| ENST00000580263.5:n.284C>T | ||
| ENST00000581562.5:n.241C>T | ||
| ENST00000582056.5:n.284C>T | ||
| ENST00000582166.1:n.82C>T | ||
| ENST00000582356.5:n.319C>T | ||
| ENST00000583312.5:c.194C>T | ENSP00000467920.1:p.Pro65Leu | |
| ENST00000584103.5:c.194C>T | ENSP00000465353.1:p.Pro65Leu | |
| NM_000018.3:c.194C>T | NP_000009.1:p.Pro65Leu | |
| NM_001033859.2:c.139-85C>T | NP_001029031.1:n.139-85C>T | |
| NM_001270447.1:c.263C>T | NP_001257376.1:p.Pro88Leu | |
| NM_001270448.1:c.-35C>T | NP_001257377.1:n.-35C>T | |
| XM_006721516.2:c.194C>T | XP_006721579.2:p.Pro65Leu | |
| XM_011523829.1:c.194C>T | XP_011522131.1:p.Pro65Leu | |
| XM_011523830.1:c.194C>T | XP_011522132.1:p.Pro65Leu | |
| XR_934021.1:n.301C>T | ||
| XR_934022.1:n.301C>T | ||
| XR_934023.1:n.301C>T | ||
| XM_006721516.3:c.194C>T | XP_006721579.2:p.Pro65Leu | |
| XM_011523829.2:c.194C>T | XP_011522131.1:p.Pro65Leu | |
| XM_011523830.2:c.194C>T | XP_011522132.1:p.Pro65Leu | |
| XM_024450741.1:c.194C>T | XP_024306509.1:p.Pro65Leu | |
| XR_934021.2:n.253C>T | ||
| XR_934022.2:n.253C>T | ||
| XR_934023.2:n.253C>T | ||
| NM_000018.4:c.194C>T MANE Select | NP_000009.1:p.Pro65Leu | |
| NM_001033859.3:c.139-85C>T | NP_001029031.1:n.139-85C>T | |
| NM_001270447.2:c.263C>T | NP_001257376.1:p.Pro88Leu | |
| NM_001270448.2:c.-35C>T | NP_001257377.1:n.-35C>T |