Linked Data
ClinVar Variation Id:
1368291
ClinVar RCV Id:
RCV001867427
dbSNP Id:
rs1279998131
gnomAD v3:
10-110812387-C-T
gnomAD v4:
10-110812387-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110812387C>T , CM000672.2:g.110812387C>T | GRCh38 |
| NC_000010.10:g.112572145C>T , CM000672.1:g.112572145C>T | GRCh37 |
| NC_000010.9:g.112562135C>T | NCBI36 |
| NG_021177.1:g.172991C>T , LRG_382:g.172991C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369519.4:c.1990C>T MANE Select | ENSP00000358532.3:p.Pro664Ser | |
| ENST00000369519.3:c.1990C>T | ENSP00000358532.3:p.Pro664Ser | |
| NM_001134363.2:c.1990C>T | NP_001127835.2:p.Pro664Ser | |
| XM_011539697.1:c.1606C>T | XP_011537999.1:p.Pro536Ser | |
| XM_017016103.2:c.1825C>T | XP_016871592.1:p.Pro609Ser | |
| XM_017016104.2:c.1606C>T | XP_016871593.1:p.Pro536Ser | |
| NM_001134363.3:c.1990C>T MANE Select | NP_001127835.2:p.Pro664Ser |