Linked Data
ClinVar Variation Id:
1283377
dbSNP Id:
rs778886643
ExAC:
20:31023750 T / C
gnomAD v2:
20-31023750-T-C
gnomAD v3:
20-32435947-T-C
gnomAD v4:
20-32435947-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32435947T>C , CM000682.2:g.32435947T>C | GRCh38 |
| NC_000020.10:g.31023750T>C , CM000682.1:g.31023750T>C | GRCh37 |
| NC_000020.9:g.30487411T>C | NCBI36 |
| NG_027868.1:g.82604T>C , LRG_630:g.82604T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375687.10:c.3235T>C MANE Select | ENSP00000364839.4:p.Ser1079Pro | |
| ENST00000646985.1:c.3052T>C | ENSP00000495053.1:p.Ser1018Pro | |
| ENST00000647223.1:n.5588T>C | ||
| ENST00000651418.1:c.1869+1366T>C | ENSP00000499150.1:n.1869+1366T>C | |
| ENST00000306058.9:c.3220T>C | ENSP00000305119.5:p.Ser1074Pro | |
| ENST00000375687.8:c.3235T>C | ENSP00000364839.4:p.Ser1079Pro | |
| ENST00000613218.4:c.3235T>C | ENSP00000480487.1:p.Ser1079Pro | |
| ENST00000620121.4:c.3235T>C | ENSP00000481978.1:p.Ser1079Pro | |
| NM_015338.5:c.3235T>C , LRG_630t1:c.3235T>C | NP_056153.2:p.Ser1079Pro | |
| XM_006723727.2:c.3232T>C | XP_006723790.1:p.Ser1078Pro | |
| XM_006723728.2:c.3205T>C | XP_006723791.1:p.Ser1069Pro | |
| XM_006723730.2:c.3151T>C | XP_006723793.1:p.Ser1051Pro | |
| XM_006723732.2:c.3052T>C | XP_006723795.1:p.Ser1018Pro | |
| XM_006723733.1:c.2551T>C | XP_006723796.1:p.Ser851Pro | |
| XM_011528647.1:c.3499T>C | XP_011526949.1:p.Ser1167Pro | |
| XM_011528648.1:c.3496T>C | XP_011526950.1:p.Ser1166Pro | |
| XM_011528649.1:c.3415T>C | XP_011526951.1:p.Ser1139Pro | |
| XM_011528650.1:c.3346T>C | XP_011526952.1:p.Ser1116Pro | |
| XM_011528651.1:c.3214T>C | XP_011526953.1:p.Ser1072Pro | |
| XM_011528652.1:c.3151T>C | XP_011526954.1:p.Ser1051Pro | |
| NM_001363734.1:c.3052T>C | NP_001350663.1:p.Ser1018Pro | |
| XM_006723727.3:c.3232T>C | XP_006723790.1:p.Ser1078Pro | |
| XM_006723728.3:c.3205T>C | XP_006723791.1:p.Ser1069Pro | |
| XM_006723730.4:c.3151T>C | XP_006723793.1:p.Ser1051Pro | |
| XM_011528648.3:c.3496T>C | XP_011526950.1:p.Ser1166Pro | |
| XM_011528652.2:c.3151T>C | XP_011526954.1:p.Ser1051Pro | |
| XM_017027704.1:c.3151T>C | XP_016883193.1:p.Ser1051Pro | |
| XM_017027705.1:c.3151T>C | XP_016883194.1:p.Ser1051Pro | |
| XM_017027706.1:c.3082T>C | XP_016883195.1:p.Ser1028Pro | |
| NM_015338.6:c.3235T>C MANE Select | NP_056153.2:p.Ser1079Pro |