Linked Data
ClinVar Variation Id:
3047374
ClinVar RCV Id:
RCV004543925
dbSNP Id:
rs758428843
gnomAD v2:
1-103412506-G-A
gnomAD v4:
1-102946950-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102946950G>A , CM000663.2:g.102946950G>A | GRCh38 |
| NC_000001.10:g.103412506G>A , CM000663.1:g.103412506G>A | GRCh37 |
| NC_000001.9:g.103185094G>A | NCBI36 |
| NG_008033.1:g.166547C>T | |
| NG_008033.2:g.166547C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.3175C>T MANE Select | ENSP00000359114.3:p.Pro1059Ser | |
| ENST00000353414.8:c.3058C>T | ENSP00000302551.6:p.Pro1020Ser | |
| ENST00000358392.6:c.3211C>T | ENSP00000351163.2:p.Pro1071Ser | |
| ENST00000370096.7:c.3175C>T | ENSP00000359114.3:p.Pro1059Ser | |
| ENST00000512756.5:c.2827C>T | ENSP00000426533.1:p.Pro943Ser | |
| ENST00000635193.1:c.2509C>T | ||
| NM_001190709.1:c.3058C>T | NP_001177638.1:p.Pro1020Ser | |
| NM_001854.3:c.3175C>T | NP_001845.3:p.Pro1059Ser | |
| NM_080629.2:c.3211C>T | NP_542196.2:p.Pro1071Ser | |
| NM_080630.3:c.2827C>T | NP_542197.3:p.Pro943Ser | |
| XM_011540719.1:c.3175C>T | XP_011539021.1:p.Pro1059Ser | |
| XM_011540720.1:c.1408C>T | XP_011539022.1:p.Pro470Ser | |
| XM_011540721.1:c.763C>T | XP_011539023.1:p.Pro255Ser | |
| NR_134980.1:n.3509C>T | ||
| XM_017000334.1:c.3328C>T | XP_016855823.1:p.Pro1110Ser | |
| XM_017000335.1:c.3322C>T | XP_016855824.1:p.Pro1108Ser | |
| XM_017000336.1:c.3328C>T | XP_016855825.1:p.Pro1110Ser | |
| XM_017000337.1:c.1726C>T | XP_016855826.1:p.Pro576Ser | |
| NM_001854.4:c.3175C>T MANE Select | NP_001845.3:p.Pro1059Ser | |
| NM_080630.4:c.2827C>T | NP_542197.3:p.Pro943Ser | |
| NR_134980.2:n.3535C>T | ||
| NM_001190709.2:c.3058C>T | NP_001177638.1:p.Pro1020Ser | |
| NM_080629.3:c.3211C>T | NP_542196.2:p.Pro1071Ser |