Linked Data
gnomAD v4:
17-30248964-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30248964C>A , CM000679.2:g.30248964C>A | GRCh38 |
| NC_000017.10:g.28575982C>A , CM000679.1:g.28575982C>A | GRCh37 |
| NC_000017.9:g.25600108C>A | NCBI36 |
| NG_011440.1:g.48093G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261714.11:c.*53G>T MANE Select | ENSP00000261714.6:n.*53G>T | |
| ENST00000261714.10:c.*53G>T | ENSP00000261714.6:n.*53G>T | |
| ENST00000578090.5:c.*1095G>T | ENSP00000462353.1:n.*1095G>T | |
| ENST00000578795.1:n.1320G>T | ||
| NM_000386.3:c.*53G>T | NP_000377.1:n.*53G>T | |
| XR_934653.1:n.701-823C>A | ||
| XR_934655.1:n.701-3110C>A | ||
| NM_000386.4:c.*53G>T MANE Select | NP_000377.1:n.*53G>T |