Linked Data
ClinVar Variation Id:
392723
dbSNP Id:
rs1057524606
gnomAD v2:
10-104835927-C-T
gnomAD v4:
10-103076170-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.103076170C>T , CM000672.2:g.103076170C>T | GRCh38 |
| NC_000010.10:g.104835927C>T , CM000672.1:g.104835927C>T | GRCh37 |
| NC_000010.9:g.104825917C>T | NCBI36 |
| NG_031932.1:g.162853C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369878.9:c.2318C>T MANE Select | ENSP00000358894.3:p.Pro773Leu | |
| ENST00000369878.8:c.2318C>T | ENSP00000358894.3:p.Pro773Leu | |
| ENST00000433628.2:c.2252C>T | ENSP00000392875.2:p.Pro751Leu | |
| ENST00000475511.1:n.372C>T | ||
| NM_017649.4:c.2318C>T | NP_060119.3:p.Pro773Leu | |
| NM_199076.2:c.2252C>T | NP_951058.1:p.Pro751Leu | |
| XR_001747118.1:n.2571C>T | ||
| XR_001747119.2:n.2505C>T | ||
| XR_001747121.1:n.2535C>T | ||
| NM_017649.5:c.2318C>T MANE Select | NP_060119.3:p.Pro773Leu | |
| NM_199076.3:c.2252C>T | NP_951058.1:p.Pro751Leu |