Linked Data
ClinVar Variation Id:
811524
ClinVar RCV Id:
RCV001001445
dbSNP Id:
rs1597525633
gnomAD v4:
17-7221674-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221674T>C , CM000679.2:g.7221674T>C | GRCh38 |
| NC_000017.10:g.7124993T>C , CM000679.1:g.7124993T>C | GRCh37 |
| NC_000017.9:g.7065717T>C | NCBI36 |
| NG_007975.1:g.6841T>C | |
| NG_008391.2:g.3377A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.614T>C MANE Select | ENSP00000349297.5:p.Leu205Pro | |
| ENST00000322910.9:c.*569T>C | ENSP00000325395.5:n.*569T>C | |
| ENST00000350303.9:c.548T>C | ENSP00000344152.5:p.Leu183Pro | |
| ENST00000356839.9:c.614T>C | ENSP00000349297.5:p.Leu205Pro | |
| ENST00000543245.6:c.683T>C | ENSP00000438689.2:p.Leu228Pro | |
| ENST00000577191.5:n.691T>C | ||
| ENST00000577857.5:n.430T>C | ||
| ENST00000579286.5:n.795T>C | ||
| ENST00000579886.2:c.452T>C | ENSP00000463246.1:p.Leu151Pro | |
| ENST00000580365.1:n.345T>C | ||
| ENST00000581378.5:c.332T>C | ||
| ENST00000581562.5:n.525-278T>C | ||
| ENST00000583312.5:c.614T>C | ENSP00000467920.1:p.Leu205Pro | |
| ENST00000583760.1:n.396T>C | ||
| NM_000018.3:c.614T>C | NP_000009.1:p.Leu205Pro | |
| NM_001033859.2:c.548T>C | NP_001029031.1:p.Leu183Pro | |
| NM_001270447.1:c.683T>C | NP_001257376.1:p.Leu228Pro | |
| NM_001270448.1:c.386T>C | NP_001257377.1:p.Leu129Pro | |
| XM_006721516.2:c.614T>C | XP_006721579.2:p.Leu205Pro | |
| XM_011523829.1:c.614T>C | XP_011522131.1:p.Leu205Pro | |
| XM_011523830.1:c.614T>C | XP_011522132.1:p.Leu205Pro | |
| XR_934021.1:n.721T>C | ||
| XR_934022.1:n.721T>C | ||
| XR_934023.1:n.721T>C | ||
| XM_006721516.3:c.614T>C | XP_006721579.2:p.Leu205Pro | |
| XM_011523829.2:c.614T>C | XP_011522131.1:p.Leu205Pro | |
| XM_011523830.2:c.614T>C | XP_011522132.1:p.Leu205Pro | |
| XM_024450741.1:c.614T>C | XP_024306509.1:p.Leu205Pro | |
| XR_934021.2:n.673T>C | ||
| XR_934022.2:n.673T>C | ||
| XR_934023.2:n.673T>C | ||
| NM_000018.4:c.614T>C MANE Select | NP_000009.1:p.Leu205Pro | |
| NM_001033859.3:c.548T>C | NP_001029031.1:p.Leu183Pro | |
| NM_001270447.2:c.683T>C | NP_001257376.1:p.Leu228Pro | |
| NM_001270448.2:c.386T>C | NP_001257377.1:p.Leu129Pro |