Linked Data
gnomAD v4:
10-103086258-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.103086258C>T , CM000672.2:g.103086258C>T | GRCh38 |
| NC_000010.10:g.104846015C>T , CM000672.1:g.104846015C>T | GRCh37 |
| NC_000010.9:g.104836005C>T | NCBI36 |
| NG_042272.1:g.112049G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369878.9:c.*9078C>T MANE Select | ENSP00000358894.3:n.*9078C>T | |
| ENST00000369878.8:c.*9078C>T | ENSP00000358894.3:n.*9078C>T | |
| XR_001747118.1:n.11959C>T | ||
| XR_001747121.1:n.11923C>T | ||
| NM_017649.5:c.*9078C>T MANE Select | NP_060119.3:n.*9078C>T | |
| NM_199076.3:c.*9078C>T | NP_951058.1:n.*9078C>T |