Linked Data
gnomAD v4:
12-56041898-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56041898G>C , CM000674.2:g.56041898G>C | GRCh38 |
| NC_000012.11:g.56435682G>C , CM000674.1:g.56435682G>C | GRCh37 |
| NC_000012.10:g.54721949G>C | NCBI36 |
| NG_023201.1:g.4997G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356464.10:c.-269G>C | ENSP00000348849.5:n.-269G>C | |
| ENST00000356464.9:c.-269G>C | ENSP00000348849.5:n.-269G>C | |
| ENST00000552361.1:c.-201G>C | ENSP00000450339.1:n.-201G>C | |
| XR_944989.3:n.106C>G | ||
| XR_944990.3:n.106C>G |