Linked Data
ClinVar Variation Id:
2964451
ClinVar RCV Id:
RCV003820553
dbSNP Id:
rs772112037
ExAC:
12:6697584 C / T
gnomAD v2:
12-6697584-C-T
gnomAD v4:
12-6588418-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6588418C>T , CM000674.2:g.6588418C>T | GRCh38 |
| NC_000012.11:g.6697584C>T , CM000674.1:g.6697584C>T | GRCh37 |
| NC_000012.10:g.6567845C>T | NCBI36 |
| NG_052823.1:g.24022G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357008.7:c.3306G>A | ENSP00000349508.3:p.Pro1102= | |
| ENST00000544040.7:c.3345G>A MANE Select | ENSP00000440542.2:p.Pro1115= | |
| ENST00000544484.6:c.3336G>A | ENSP00000440392.1:p.Pro1112= | |
| ENST00000642594.1:c.3271G>A | ||
| ENST00000642810.1:c.3285G>A | ENSP00000495160.1:p.Pro1095= | |
| ENST00000642879.1:c.3285G>A | ENSP00000494456.1:p.Pro1095= | |
| ENST00000643335.1:c.3324G>A | ENSP00000496358.1:p.Pro1108= | |
| ENST00000643815.1:c.2062G>A | ||
| ENST00000644137.1:c.3324G>A | ENSP00000495816.1:p.Pro1108= | |
| ENST00000644289.1:c.3312G>A | ENSP00000496707.1:p.Pro1104= | |
| ENST00000644352.1:c.1203G>A | ENSP00000494981.1:p.Pro401= | |
| ENST00000644356.1:n.1300G>A | ||
| ENST00000644480.2:c.3324G>A | ENSP00000493629.2:p.Pro1108= | |
| ENST00000644801.1:c.*21G>A | ENSP00000496660.1:n.*21G>A | |
| ENST00000645005.1:c.3345G>A | ENSP00000493471.1:p.Pro1115= | |
| ENST00000645022.1:c.3324G>A | ENSP00000496163.1:p.Pro1108= | |
| ENST00000645095.1:c.3345G>A | ENSP00000496634.1:p.Pro1115= | |
| ENST00000645645.1:c.3306G>A | ENSP00000496543.1:p.Pro1102= | |
| ENST00000646070.1:n.128G>A | ||
| ENST00000646268.1:c.3324G>A | ENSP00000495023.1:p.Pro1108= | |
| ENST00000646366.1:n.2925G>A | ||
| ENST00000646608.1:c.2273G>A | ||
| ENST00000646806.1:c.3285G>A | ENSP00000494574.1:p.Pro1095= | |
| ENST00000647483.1:c.1346G>A | ||
| ENST00000357008.6:c.3345G>A | ENSP00000349508.2:p.Pro1115= | |
| ENST00000536301.1:n.48+3120G>A | ||
| ENST00000544040.5:c.3324G>A | ENSP00000440542.1:p.Pro1108= | |
| ENST00000544484.5:c.3336G>A | ENSP00000440392.1:p.Pro1112= | |
| NM_001273.3:c.3345G>A | NP_001264.2:p.Pro1115= | |
| NM_001297553.1:c.3324G>A | NP_001284482.1:p.Pro1108= | |
| XM_005253668.3:c.3324G>A | XP_005253725.1:p.Pro1108= | |
| XM_006718958.1:c.3345G>A | XP_006719021.1:p.Pro1115= | |
| XM_006718959.1:c.3345G>A | XP_006719022.1:p.Pro1115= | |
| XM_006718960.1:c.3345G>A | XP_006719023.1:p.Pro1115= | |
| XM_006718961.2:c.3324G>A | XP_006719024.1:p.Pro1108= | |
| XM_006718962.1:c.3306G>A | XP_006719025.1:p.Pro1102= | |
| NM_001273.4:c.3345G>A | NP_001264.2:p.Pro1115= | |
| NM_001297553.2:c.3324G>A | NP_001284482.1:p.Pro1108= | |
| NM_001363606.1:c.3306G>A | NP_001350535.1:p.Pro1102= | |
| XM_017018725.1:c.3345G>A | XP_016874214.1:p.Pro1115= | |
| XM_017018726.1:c.3345G>A | XP_016874215.1:p.Pro1115= | |
| XM_017018727.1:c.3345G>A | XP_016874216.1:p.Pro1115= | |
| XM_017018728.1:c.3345G>A | XP_016874217.1:p.Pro1115= | |
| XM_017018729.1:c.3324G>A | XP_016874218.1:p.Pro1108= | |
| XM_017018730.1:c.3306G>A | XP_016874219.1:p.Pro1102= | |
| XM_017018731.1:c.3306G>A | XP_016874220.1:p.Pro1102= | |
| XM_017018732.1:c.3285G>A | XP_016874221.1:p.Pro1095= | |
| XM_017018733.1:c.3285G>A | XP_016874222.1:p.Pro1095= | |
| XM_017018734.1:c.3285G>A | XP_016874223.1:p.Pro1095= | |
| XM_024448802.1:c.3345G>A | XP_024304570.1:p.Pro1115= | |
| XM_024448803.1:c.3324G>A | XP_024304571.1:p.Pro1108= | |
| XM_024448804.1:c.3306G>A | XP_024304572.1:p.Pro1102= | |
| XM_024448805.1:c.3285G>A | XP_024304573.1:p.Pro1095= | |
| NM_001273.5:c.3345G>A MANE Select | NP_001264.2:p.Pro1115= | |
| NM_001363606.2:c.3306G>A | NP_001350535.1:p.Pro1102= |