Linked Data
ClinVar Variation Id:
39249
ClinVar RCV Id:
RCV000032526
dbSNP Id:
rs199476199
gnomAD v4:
4-186205233-T-C
PubMed:
PMID:22497028
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186205233T>C , CM000666.2:g.186205233T>C | GRCh38 |
| NC_000004.11:g.187126387T>C , CM000666.1:g.187126387T>C | GRCh37 |
| NC_000004.10:g.187363381T>C | NCBI36 |
| NG_007965.1:g.18714T>C | |
| NG_012095.2:g.1255T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.1021T>C MANE Select | ENSP00000368079.4:p.Ser341Pro | |
| ENST00000378802.4:c.1021T>C | ENSP00000368079.4:p.Ser341Pro | |
| ENST00000502665.1:n.256T>C | ||
| ENST00000507209.5:n.5719T>C | ||
| ENST00000513354.5:n.111T>C | ||
| NM_207352.3:c.1021T>C | NP_997235.3:p.Ser341Pro | |
| XM_005262935.2:c.1021T>C | XP_005262992.1:p.Ser341Pro | |
| XM_006714184.2:c.625T>C | XP_006714247.1:p.Ser209Pro | |
| XM_005262935.4:c.1021T>C | XP_005262992.1:p.Ser341Pro | |
| XM_017008037.1:c.625T>C | XP_016863526.1:p.Ser209Pro | |
| NM_207352.4:c.1021T>C MANE Select | NP_997235.3:p.Ser341Pro |