Linked Data
ClinVar Variation Id:
1002070
ClinVar RCV Id:
RCV001298444
dbSNP Id:
rs1450621711
gnomAD v2:
6-100054965-C-T
gnomAD v3:
6-99607089-C-T
gnomAD v4:
6-99607089-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.99607089C>T , CM000668.2:g.99607089C>T | GRCh38 |
| NC_000006.11:g.100054965C>T , CM000668.1:g.100054965C>T | GRCh37 |
| NC_000006.10:g.100161686C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369215.5:c.55C>T MANE Select | ENSP00000358217.5:p.Pro19Ser | |
| ENST00000369214.2:c.55C>T | ENSP00000358216.2:p.Pro19Ser | |
| ENST00000369215.4:c.55C>T | ENSP00000358217.4:p.Pro19Ser | |
| NM_021620.3:c.55C>T | NP_067633.2:p.Pro19Ser | |
| NM_021620.4:c.55C>T MANE Select | NP_067633.2:p.Pro19Ser |