Linked Data
ClinVar Variation Id:
2883230
ClinVar RCV Id:
RCV003600305
dbSNP Id:
rs757208394
ExAC:
17:7124232 G / C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7220913G>C , CM000679.2:g.7220913G>C | GRCh38 |
| NC_000017.10:g.7124232G>C , CM000679.1:g.7124232G>C | GRCh37 |
| NC_000017.9:g.7064956G>C | NCBI36 |
| NG_007975.1:g.6080G>C | |
| NG_008391.2:g.4138C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.343-11G>C MANE Select | ENSP00000349297.5:n.343-11G>C | |
| ENST00000322910.9:c.*298-11G>C | ENSP00000325395.5:n.*298-11G>C | |
| ENST00000350303.9:c.277-11G>C | ENSP00000344152.5:n.277-11G>C | |
| ENST00000356839.9:c.343-11G>C | ENSP00000349297.5:n.343-11G>C | |
| ENST00000543245.6:c.412-11G>C | ENSP00000438689.2:n.412-11G>C | |
| ENST00000577191.5:n.420-11G>C | ||
| ENST00000577433.5:n.551-11G>C | ||
| ENST00000577857.5:n.293+83G>C | ||
| ENST00000579286.5:n.524-11G>C | ||
| ENST00000579886.2:c.202-32G>C | ENSP00000463246.1:n.202-32G>C | |
| ENST00000580365.1:n.74-11G>C | ||
| ENST00000581378.5:c.42-11G>C | ||
| ENST00000581562.5:n.390-11G>C | ||
| ENST00000582056.5:n.515G>C | ||
| ENST00000582166.1:n.313G>C | ||
| ENST00000582356.5:n.624G>C | ||
| ENST00000583312.5:c.343-11G>C | ENSP00000467920.1:n.343-11G>C | |
| ENST00000584103.5:c.365G>C | ENSP00000465353.1:p.Cys122Ser | |
| NM_000018.3:c.343-11G>C | NP_000009.1:n.343-11G>C | |
| NM_001033859.2:c.277-11G>C | NP_001029031.1:n.277-11G>C | |
| NM_001270447.1:c.412-11G>C | NP_001257376.1:n.412-11G>C | |
| NM_001270448.1:c.115-11G>C | NP_001257377.1:n.115-11G>C | |
| XM_006721516.2:c.343-11G>C | XP_006721579.2:n.343-11G>C | |
| XM_011523829.1:c.343-11G>C | XP_011522131.1:n.343-11G>C | |
| XM_011523830.1:c.343-11G>C | XP_011522132.1:n.343-11G>C | |
| XR_934021.1:n.450-11G>C | ||
| XR_934022.1:n.450-11G>C | ||
| XR_934023.1:n.450-11G>C | ||
| XM_006721516.3:c.343-11G>C | XP_006721579.2:n.343-11G>C | |
| XM_011523829.2:c.343-11G>C | XP_011522131.1:n.343-11G>C | |
| XM_011523830.2:c.343-11G>C | XP_011522132.1:n.343-11G>C | |
| XM_024450741.1:c.343-11G>C | XP_024306509.1:n.343-11G>C | |
| XR_934021.2:n.402-11G>C | ||
| XR_934022.2:n.402-11G>C | ||
| XR_934023.2:n.402-11G>C | ||
| NM_000018.4:c.343-11G>C MANE Select | NP_000009.1:n.343-11G>C | |
| NM_001033859.3:c.277-11G>C | NP_001029031.1:n.277-11G>C | |
| NM_001270447.2:c.412-11G>C | NP_001257376.1:n.412-11G>C | |
| NM_001270448.2:c.115-11G>C | NP_001257377.1:n.115-11G>C |