Linked Data
gnomAD v4:
12-91111469-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.91111469G>A , CM000674.2:g.91111469G>A | GRCh38 |
| NC_000012.11:g.91505246G>A , CM000674.1:g.91505246G>A | GRCh37 |
| NC_000012.10:g.90029377G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266718.5:c.-93C>T MANE Select | ENSP00000266718.4:n.-93C>T | |
| ENST00000266718.4:c.-93C>T | ENSP00000266718.4:n.-93C>T | |
| ENST00000548071.1:n.18C>T | ||
| NM_002345.3:c.-93C>T | NP_002336.1:n.-93C>T | |
| NM_002345.4:c.-93C>T MANE Select | NP_002336.1:n.-93C>T |