Linked Data
dbSNP Id:
rs937888249
gnomAD v4:
12-56041905-G-C
MyVariant Identifiers:
chr12:g.56041905G>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56041905G>C , CM000674.2:g.56041905G>C | GRCh38 |
| NC_000012.11:g.56435689G>C , CM000674.1:g.56435689G>C | GRCh37 |
| NC_000012.10:g.54721956G>C | NCBI36 |
| NG_023201.1:g.5004G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356464.10:c.-262G>C | ENSP00000348849.5:n.-262G>C | |
| ENST00000356464.9:c.-262G>C | ENSP00000348849.5:n.-262G>C | |
| ENST00000552361.1:c.-194G>C | ENSP00000450339.1:n.-194G>C | |
| NM_001029.3:c.-262G>C | NP_001020.2:n.-262G>C | |
| XR_944989.3:n.99C>G | ||
| XR_944990.3:n.99C>G |