Linked Data
ClinVar Variation Id:
682411
dbSNP Id:
rs538411146
ExAC:
10:121432184 C / T
gnomAD v2:
10-121432184-C-T
gnomAD v3:
10-119672672-C-T
gnomAD v4:
10-119672672-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119672672C>T , CM000672.2:g.119672672C>T | GRCh38 |
| NC_000010.10:g.121432184C>T , CM000672.1:g.121432184C>T | GRCh37 |
| NC_000010.9:g.121422174C>T | NCBI36 |
| NG_016125.1:g.26303C>T , LRG_742:g.26303C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.909+16C>T MANE Select | ENSP00000358081.4:n.909+16C>T | |
| ENST00000369085.7:c.909+16C>T | ENSP00000358081.3:n.909+16C>T | |
| ENST00000450186.1:c.735+16C>T | ENSP00000410036.1:n.735+16C>T | |
| NM_004281.3:c.909+16C>T , LRG_742t1:c.909+16C>T | NP_004272.2:n.909+16C>T | |
| XM_005270287.1:c.909+16C>T | XP_005270344.1:n.909+16C>T | |
| XM_005270287.2:c.909+16C>T | XP_005270344.1:n.909+16C>T | |
| NM_004281.4:c.909+16C>T MANE Select | NP_004272.2:n.909+16C>T |