Linked Data
ClinVar Variation Id:
541720
ClinVar RCV Id:
RCV000652038
dbSNP Id:
rs1555527925
gnomAD v4:
17-7221012-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221012T>C , CM000679.2:g.7221012T>C | GRCh38 |
| NC_000017.10:g.7124331T>C , CM000679.1:g.7124331T>C | GRCh37 |
| NC_000017.9:g.7065055T>C | NCBI36 |
| NG_007975.1:g.6179T>C | |
| NG_008391.2:g.4039A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.431T>C MANE Select | ENSP00000349297.5:p.Leu144Pro | |
| ENST00000322910.9:c.*386T>C | ENSP00000325395.5:n.*386T>C | |
| ENST00000350303.9:c.365T>C | ENSP00000344152.5:p.Leu122Pro | |
| ENST00000356839.9:c.431T>C | ENSP00000349297.5:p.Leu144Pro | |
| ENST00000543245.6:c.500T>C | ENSP00000438689.2:p.Leu167Pro | |
| ENST00000577191.5:n.508T>C | ||
| ENST00000577433.5:n.639T>C | ||
| ENST00000577857.5:n.293+182T>C | ||
| ENST00000579286.5:n.612T>C | ||
| ENST00000579886.2:c.269T>C | ENSP00000463246.1:p.Leu90Pro | |
| ENST00000580365.1:n.162T>C | ||
| ENST00000581378.5:c.130T>C | ||
| ENST00000581562.5:n.478T>C | ||
| ENST00000582056.5:n.614T>C | ||
| ENST00000582166.1:n.412T>C | ||
| ENST00000583312.5:c.431T>C | ENSP00000467920.1:p.Leu144Pro | |
| ENST00000584103.5:c.464T>C | ENSP00000465353.1:p.Leu155Pro | |
| NM_000018.3:c.431T>C | NP_000009.1:p.Leu144Pro | |
| NM_001033859.2:c.365T>C | NP_001029031.1:p.Leu122Pro | |
| NM_001270447.1:c.500T>C | NP_001257376.1:p.Leu167Pro | |
| NM_001270448.1:c.203T>C | NP_001257377.1:p.Leu68Pro | |
| XM_006721516.2:c.431T>C | XP_006721579.2:p.Leu144Pro | |
| XM_011523829.1:c.431T>C | XP_011522131.1:p.Leu144Pro | |
| XM_011523830.1:c.431T>C | XP_011522132.1:p.Leu144Pro | |
| XR_934021.1:n.538T>C | ||
| XR_934022.1:n.538T>C | ||
| XR_934023.1:n.538T>C | ||
| XM_006721516.3:c.431T>C | XP_006721579.2:p.Leu144Pro | |
| XM_011523829.2:c.431T>C | XP_011522131.1:p.Leu144Pro | |
| XM_011523830.2:c.431T>C | XP_011522132.1:p.Leu144Pro | |
| XM_024450741.1:c.431T>C | XP_024306509.1:p.Leu144Pro | |
| XR_934021.2:n.490T>C | ||
| XR_934022.2:n.490T>C | ||
| XR_934023.2:n.490T>C | ||
| NM_000018.4:c.431T>C MANE Select | NP_000009.1:p.Leu144Pro | |
| NM_001033859.3:c.365T>C | NP_001029031.1:p.Leu122Pro | |
| NM_001270447.2:c.500T>C | NP_001257376.1:p.Leu167Pro | |
| NM_001270448.2:c.203T>C | NP_001257377.1:p.Leu68Pro |