Linked Data
ClinVar Variation Id:
130247
ClinVar RCV Id:
RCV000118283
RCV000713156
RCV001509964
RCV001807067
RCV002312499
RCV001807066
RCV001807064
RCV001807065
dbSNP Id:
rs303815
ExAC:
12:52184271 T / C
gnomAD v2:
12-52184271-T-C
gnomAD v3:
12-51790487-T-C
gnomAD v4:
12-51790487-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51790487T>C , CM000674.2:g.51790487T>C | GRCh38 |
| NC_000012.11:g.52184271T>C , CM000674.1:g.52184271T>C | GRCh37 |
| NC_000012.10:g.50470538T>C | NCBI36 |
| NG_021180.2:g.204252T>C | |
| NG_021180.3:g.205530T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354534.11:c.4509T>C MANE Plus Clinical | ENSP00000346534.4:p.Pro1503= | |
| ENST00000627620.5:c.4509T>C MANE Select | ENSP00000487583.2:p.Pro1503= | |
| ENST00000636945.2:c.2573T>C | ||
| ENST00000662684.1:c.4509T>C | ENSP00000499636.1:p.Pro1503= | |
| ENST00000668547.1:c.4386T>C | ENSP00000499691.1:p.Pro1462= | |
| ENST00000354534.10:c.4509T>C | ENSP00000346534.4:p.Pro1503= | |
| ENST00000355133.7:c.4386T>C | ENSP00000347255.4:p.Pro1462= | |
| ENST00000545061.5:c.4386T>C | ENSP00000440360.1:p.Pro1462= | |
| ENST00000599343.5:c.4542T>C | ENSP00000476447.3:p.Pro1514= | |
| ENST00000627620.2:c.4509T>C | ENSP00000487583.1:p.Pro1503= | |
| NM_001177984.2:c.4386T>C | NP_001171455.1:p.Pro1462= | |
| NM_014191.3:c.4509T>C | NP_055006.1:p.Pro1503= | |
| XM_006719556.2:c.4509T>C | XP_006719619.1:p.Pro1503= | |
| XM_011538650.1:c.4509T>C | XP_011536952.1:p.Pro1503= | |
| XM_011538651.1:c.4509T>C | XP_011536953.1:p.Pro1503= | |
| NM_001330260.1:c.4509T>C | NP_001317189.1:p.Pro1503= | |
| XM_006719556.4:c.4509T>C | XP_006719619.1:p.Pro1503= | |
| XM_011538651.3:c.4509T>C | XP_011536953.1:p.Pro1503= | |
| XM_017019794.2:c.4509T>C | XP_016875283.1:p.Pro1503= | |
| XM_017019795.2:c.4386T>C | XP_016875284.1:p.Pro1462= | |
| NM_001330260.2:c.4509T>C MANE Select | NP_001317189.1:p.Pro1503= | |
| NM_001369788.1:c.4386T>C | NP_001356717.1:p.Pro1462= | |
| NM_014191.4:c.4509T>C MANE Plus Clinical | NP_055006.1:p.Pro1503= | |
| NM_001177984.3:c.4386T>C | NP_001171455.1:p.Pro1462= |