Linked Data
gnomAD v4:
12-47972966-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47972966G>A , CM000674.2:g.47972966G>A | GRCh38 |
| NC_000012.11:g.48366749G>A , CM000674.1:g.48366749G>A | GRCh37 |
| NC_000012.10:g.46653016G>A | NCBI36 |
| NG_008072.1:g.36537C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380518.7:c.*441C>T | ENSP00000369889.3:n.*441C>T | |
| NM_001844.4:c.*441C>T | NP_001835.3:n.*441C>T | |
| NM_033150.2:c.*441C>T | NP_149162.2:n.*441C>T |