Linked Data
dbSNP Id:
rs762209469
ExAC:
2:32288964 C / T
gnomAD v2:
2-32288964-C-T
gnomAD v4:
2-32063895-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32063895C>T , CM000664.2:g.32063895C>T | GRCh38 |
| NC_000002.11:g.32288964C>T , CM000664.1:g.32288964C>T | GRCh37 |
| NC_000002.10:g.32142468C>T | NCBI36 |
| NG_008730.1:g.5285C>T , LRG_714:g.5285C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704289.1:c.64C>T | ENSP00000515816.1:p.Pro22Ser | |
| ENST00000315285.9:c.64C>T MANE Select | ENSP00000320885.3:p.Pro22Ser | |
| ENST00000621856.2:c.64C>T | ENSP00000482496.2:p.Pro22Ser | |
| ENST00000642455.1:c.64C>T | ENSP00000493827.1:p.Pro22Ser | |
| ENST00000646571.1:c.64C>T | ENSP00000495015.1:p.Pro22Ser | |
| ENST00000315285.7:c.64C>T | ENSP00000320885.3:p.Pro22Ser | |
| ENST00000345662.5:c.64C>T | ENSP00000340817.1:p.Pro22Ser | |
| ENST00000615843.4:c.64C>T | ENSP00000480893.1:p.Pro22Ser | |
| NM_014946.3:c.64C>T , LRG_714t1:c.64C>T | NP_055761.2:p.Pro22Ser | |
| NM_199436.1:c.64C>T | NP_955468.1:p.Pro22Ser | |
| XM_005264516.3:c.64C>T | XP_005264573.1:p.Pro22Ser | |
| XM_011533067.1:c.64C>T | XP_011531369.1:p.Pro22Ser | |
| NM_001363823.1:c.64C>T | NP_001350752.1:p.Pro22Ser | |
| NM_001363875.1:c.64C>T | NP_001350804.1:p.Pro22Ser | |
| XM_005264516.5:c.64C>T | XP_005264573.1:p.Pro22Ser | |
| XM_011533067.2:c.64C>T | XP_011531369.1:p.Pro22Ser | |
| XM_017004778.2:c.64C>T | XP_016860267.1:p.Pro22Ser | |
| NM_001363823.2:c.64C>T | NP_001350752.1:p.Pro22Ser | |
| NM_001363875.2:c.64C>T | NP_001350804.1:p.Pro22Ser | |
| NM_001377959.1:c.64C>T | NP_001364888.1:p.Pro22Ser | |
| NM_014946.4:c.64C>T MANE Select | NP_055761.2:p.Pro22Ser | |
| NM_199436.2:c.64C>T | NP_955468.1:p.Pro22Ser |