Linked Data
dbSNP Id:
rs1389228454
gnomAD v2:
10-104846260-T-A
gnomAD v3:
10-103086503-T-A
gnomAD v4:
10-103086503-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.103086503T>A , CM000672.2:g.103086503T>A | GRCh38 |
| NC_000010.10:g.104846260T>A , CM000672.1:g.104846260T>A | GRCh37 |
| NC_000010.9:g.104836250T>A | NCBI36 |
| NG_042272.1:g.111804A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369878.9:c.*9323T>A MANE Select | ENSP00000358894.3:n.*9323T>A | |
| ENST00000369878.8:c.*9323T>A | ENSP00000358894.3:n.*9323T>A | |
| XR_001747118.1:n.12204T>A | ||
| XR_001747121.1:n.12168T>A | ||
| NM_017649.5:c.*9323T>A MANE Select | NP_060119.3:n.*9323T>A | |
| NM_199076.3:c.*9323T>A | NP_951058.1:n.*9323T>A |