Linked Data
ClinVar Variation Id:
1958068
ClinVar RCV Id:
RCV002691107
dbSNP Id:
rs1402621376
gnomAD v2:
4-187115731-C-T
gnomAD v3:
4-186194577-C-T
gnomAD v4:
4-186194577-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186194577C>T , CM000666.2:g.186194577C>T | GRCh38 |
| NC_000004.11:g.187115731C>T , CM000666.1:g.187115731C>T | GRCh37 |
| NC_000004.10:g.187352725C>T | NCBI36 |
| NG_007965.1:g.8058C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.292C>T MANE Select | ENSP00000368079.4:p.Pro98Ser | |
| ENST00000378802.4:c.292C>T | ENSP00000368079.4:p.Pro98Ser | |
| NM_207352.3:c.292C>T | NP_997235.3:p.Pro98Ser | |
| XM_005262935.2:c.292C>T | XP_005262992.1:p.Pro98Ser | |
| XM_006714184.2:c.-19C>T | XP_006714247.1:n.-19C>T | |
| XM_005262935.4:c.292C>T | XP_005262992.1:p.Pro98Ser | |
| XM_017008037.1:c.-19C>T | XP_016863526.1:n.-19C>T | |
| NM_207352.4:c.292C>T MANE Select | NP_997235.3:p.Pro98Ser |