Linked Data
gnomAD v4:
12-52520410-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52520410T>G , CM000674.2:g.52520410T>G | GRCh38 |
| NC_000012.11:g.52914194T>G , CM000674.1:g.52914194T>G | GRCh37 |
| NC_000012.10:g.51200461T>G | NCBI36 |
| NG_008297.1:g.5050A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.8:c.-114A>C | ENSP00000252242.4:n.-114A>C | |
| ENST00000546577.1:c.-26A>C | ENSP00000449651.1:n.-26A>C | |
| NM_000424.3:c.-114A>C | NP_000415.2:n.-114A>C |