Linked Data
ClinVar Variation Id:
200821
dbSNP Id:
rs764781840
gnomAD v2:
11-2593316-T-C
gnomAD v4:
11-2572086-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2572086T>C , CM000673.2:g.2572086T>C | GRCh38 |
| NC_000011.9:g.2593316T>C , CM000673.1:g.2593316T>C | GRCh37 |
| NC_000011.8:g.2549892T>C | NCBI36 |
| NG_008935.1:g.132096T>C , LRG_287:g.132096T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.496T>C | ENSP00000434560.2:p.Ser166Pro | |
| ENST00000646564.2:c.478-11349T>C | ENSP00000495806.2:n.478-11349T>C | |
| ENST00000155840.12:c.757T>C MANE Select | ENSP00000155840.2:p.Ser253Pro | |
| ENST00000335475.6:c.376T>C | ENSP00000334497.5:p.Ser126Pro | |
| ENST00000646564.1:c.124-11349T>C | ENSP00000495806.1:n.124-11349T>C | |
| ENST00000155840.9:c.757T>C | ENSP00000155840.2:p.Ser253Pro | |
| ENST00000335475.5:c.376T>C | ENSP00000334497.5:p.Ser126Pro | |
| ENST00000496887.6:c.496T>C | ENSP00000434560.1:p.Ser166Pro | |
| NM_000218.2:c.757T>C , LRG_287t1:c.757T>C | NP_000209.2:p.Ser253Pro | |
| NM_181798.1:c.376T>C , LRG_287t2:c.376T>C | NP_861463.1:p.Ser126Pro | |
| NM_000218.3:c.757T>C MANE Select | NP_000209.2:p.Ser253Pro |