Linked Data
ClinVar Variation Id:
508247
dbSNP Id:
rs202217537
ExAC:
17:7127402 T / C
gnomAD v2:
17-7127402-T-C
gnomAD v3:
17-7224083-T-C
gnomAD v4:
17-7224083-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224083T>C , CM000679.2:g.7224083T>C | GRCh38 |
| NC_000017.10:g.7127402T>C , CM000679.1:g.7127402T>C | GRCh37 |
| NC_000017.9:g.7068126T>C | NCBI36 |
| NG_007975.1:g.9250T>C | |
| NG_008391.2:g.968A>G | |
| NG_033038.1:g.15462A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1434+14T>C MANE Select | ENSP00000349297.5:n.1434+14T>C | |
| ENST00000322910.9:c.*1389+14T>C | ENSP00000325395.5:n.*1389+14T>C | |
| ENST00000350303.9:c.1368+14T>C | ENSP00000344152.5:n.1368+14T>C | |
| ENST00000356839.9:c.1434+14T>C | ENSP00000349297.5:n.1434+14T>C | |
| ENST00000542255.6:c.292+14T>C | ||
| ENST00000543245.6:c.1503+14T>C | ENSP00000438689.2:n.1503+14T>C | |
| ENST00000578711.1:n.579T>C | ||
| ENST00000579425.5:n.550+14T>C | ||
| ENST00000579546.1:c.271+14T>C | ||
| ENST00000579894.5:n.159T>C | ||
| ENST00000583074.5:n.153+14T>C | ||
| ENST00000583850.5:n.209+14T>C | ||
| ENST00000583858.5:c.463+14T>C | ||
| ENST00000585203.6:n.625+14T>C | ||
| NM_000018.3:c.1434+14T>C | NP_000009.1:n.1434+14T>C | |
| NM_001033859.2:c.1368+14T>C | NP_001029031.1:n.1368+14T>C | |
| NM_001270447.1:c.1503+14T>C | NP_001257376.1:n.1503+14T>C | |
| NM_001270448.1:c.1206+14T>C | NP_001257377.1:n.1206+14T>C | |
| XM_006721516.2:c.1434+14T>C | XP_006721579.2:n.1434+14T>C | |
| XM_011523829.1:c.1434+14T>C | XP_011522131.1:n.1434+14T>C | |
| XM_011523830.1:c.1434+14T>C | XP_011522132.1:n.1434+14T>C | |
| XR_934021.1:n.1541+14T>C | ||
| XR_934022.1:n.1541+14T>C | ||
| XR_934023.1:n.1541+14T>C | ||
| XM_006721516.3:c.1434+14T>C | XP_006721579.2:n.1434+14T>C | |
| XM_011523829.2:c.1434+14T>C | XP_011522131.1:n.1434+14T>C | |
| XM_011523830.2:c.1434+14T>C | XP_011522132.1:n.1434+14T>C | |
| XM_024450741.1:c.1434+14T>C | XP_024306509.1:n.1434+14T>C | |
| XR_934021.2:n.1493+14T>C | ||
| XR_934022.2:n.1493+14T>C | ||
| XR_934023.2:n.1493+14T>C | ||
| NM_000018.4:c.1434+14T>C MANE Select | NP_000009.1:n.1434+14T>C | |
| NM_001033859.3:c.1368+14T>C | NP_001029031.1:n.1368+14T>C | |
| NM_001270447.2:c.1503+14T>C | NP_001257376.1:n.1503+14T>C | |
| NM_001270448.2:c.1206+14T>C | NP_001257377.1:n.1206+14T>C |