Linked Data
ClinVar Variation Id:
370856
ClinVar RCV Id:
RCV000410269
dbSNP Id:
rs1057516817
gnomAD v2:
17-7123518-T-C
gnomAD v4:
17-7220199-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7220199T>C , CM000679.2:g.7220199T>C | GRCh38 |
| NC_000017.10:g.7123518T>C , CM000679.1:g.7123518T>C | GRCh37 |
| NC_000017.9:g.7064242T>C | NCBI36 |
| NG_007975.1:g.5366T>C | |
| NG_008391.2:g.4852A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.138+2T>C MANE Select | ENSP00000349297.5:n.138+2T>C | |
| ENST00000322910.9:c.*93+2T>C | ENSP00000325395.5:n.*93+2T>C | |
| ENST00000350303.9:c.138+2T>C | ENSP00000344152.5:n.138+2T>C | |
| ENST00000356839.9:c.138+2T>C | ENSP00000349297.5:n.138+2T>C | |
| ENST00000543245.6:c.207+2T>C | ENSP00000438689.2:n.207+2T>C | |
| ENST00000577191.5:n.215+2T>C | ||
| ENST00000577433.5:n.8T>C | ||
| ENST00000577857.5:n.228+2T>C | ||
| ENST00000578269.5:n.247T>C | ||
| ENST00000578421.1:n.272+2T>C | ||
| ENST00000579286.5:n.245+2T>C | ||
| ENST00000579886.2:c.138+2T>C | ENSP00000463246.1:n.138+2T>C | |
| ENST00000580263.5:n.228+2T>C | ||
| ENST00000581562.5:n.185+2T>C | ||
| ENST00000582056.5:n.228+2T>C | ||
| ENST00000582356.5:n.263+2T>C | ||
| ENST00000583312.5:c.138+2T>C | ENSP00000467920.1:n.138+2T>C | |
| ENST00000584103.5:c.138+2T>C | ENSP00000465353.1:n.138+2T>C | |
| NM_000018.3:c.138+2T>C | NP_000009.1:n.138+2T>C | |
| NM_001033859.2:c.138+2T>C | NP_001029031.1:n.138+2T>C | |
| NM_001270447.1:c.207+2T>C | NP_001257376.1:n.207+2T>C | |
| NM_001270448.1:c.-91+2T>C | NP_001257377.1:n.-91+2T>C | |
| XM_006721516.2:c.138+2T>C | XP_006721579.2:n.138+2T>C | |
| XM_011523829.1:c.138+2T>C | XP_011522131.1:n.138+2T>C | |
| XM_011523830.1:c.138+2T>C | XP_011522132.1:n.138+2T>C | |
| XR_934021.1:n.245+2T>C | ||
| XR_934022.1:n.245+2T>C | ||
| XR_934023.1:n.245+2T>C | ||
| XM_006721516.3:c.138+2T>C | XP_006721579.2:n.138+2T>C | |
| XM_011523829.2:c.138+2T>C | XP_011522131.1:n.138+2T>C | |
| XM_011523830.2:c.138+2T>C | XP_011522132.1:n.138+2T>C | |
| XM_024450741.1:c.138+2T>C | XP_024306509.1:n.138+2T>C | |
| XR_934021.2:n.197+2T>C | ||
| XR_934022.2:n.197+2T>C | ||
| XR_934023.2:n.197+2T>C | ||
| NM_000018.4:c.138+2T>C MANE Select | NP_000009.1:n.138+2T>C | |
| NM_001033859.3:c.138+2T>C | NP_001029031.1:n.138+2T>C | |
| NM_001270447.2:c.207+2T>C | NP_001257376.1:n.207+2T>C | |
| NM_001270448.2:c.-91+2T>C | NP_001257377.1:n.-91+2T>C |