Linked Data
ClinVar Variation Id:
733992
ClinVar RCV Id:
RCV000909362
dbSNP Id:
rs61740226
ExAC:
3:52327136 T / C
gnomAD v2:
3-52327136-T-C
gnomAD v3:
3-52293120-T-C
gnomAD v4:
3-52293120-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52293120T>C , CM000665.2:g.52293120T>C | GRCh38 |
| NC_000003.11:g.52327136T>C , CM000665.1:g.52327136T>C | GRCh37 |
| NC_000003.10:g.52302176T>C | NCBI36 |
| NG_023246.1:g.10301T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436784.7:c.1566T>C MANE Select | ENSP00000389175.2:p.Pro522= | |
| ENST00000436784.6:c.1566T>C | ENSP00000389175.2:p.Pro522= | |
| ENST00000461183.5:c.838T>C | ENSP00000417264.1:p.Ser280Pro | |
| ENST00000471180.5:c.709T>C | ENSP00000417526.1:p.Ser237Pro | |
| ENST00000473032.5:c.604T>C | ENSP00000418951.1:p.Ser202Pro | |
| ENST00000486393.5:c.*929T>C | ENSP00000419868.1:n.*929T>C | |
| ENST00000489173.1:n.1860T>C | ||
| NM_145262.3:c.1566T>C | NP_660305.2:p.Pro522= | |
| NR_026699.1:n.1664T>C | ||
| NR_026700.1:n.770T>C | ||
| NR_026701.1:n.1662T>C | ||
| NR_026702.1:n.700T>C | ||
| XM_005264878.2:c.*685T>C | XP_005264935.1:n.*685T>C | |
| XR_245095.2:n.2817T>C | ||
| XM_017005730.1:c.1185T>C | XP_016861219.1:p.Pro395= | |
| XM_024453351.1:c.1566T>C | XP_024309119.1:p.Pro522= | |
| XM_024453352.1:c.*685T>C | XP_024309120.1:n.*685T>C | |
| XR_001740022.2:n.3468T>C | ||
| XR_001740023.2:n.2992T>C | ||
| XR_245095.4:n.2818T>C | ||
| NM_145262.4:c.1566T>C MANE Select | NP_660305.2:p.Pro522= | |
| NR_026699.2:n.1656T>C | ||
| NR_026700.2:n.762T>C | ||
| NR_026701.2:n.1654T>C | ||
| NR_026702.2:n.692T>C | ||
| NM_001144951.2:c.*685T>C | NP_001138423.1:n.*685T>C |