Linked Data
dbSNP Id:
rs1941017421
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48981665G>C , CM000674.2:g.48981665G>C | GRCh38 |
| NC_000012.11:g.49375448G>C , CM000674.1:g.49375448G>C | GRCh37 |
| NC_000012.10:g.47661715G>C | NCBI36 |
| NG_033141.1:g.8213G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293549.4:c.*25G>C MANE Select | ENSP00000293549.3:n.*25G>C | |
| ENST00000293549.3:c.*25G>C | ENSP00000293549.3:n.*25G>C | |
| NM_005430.3:c.*25G>C | NP_005421.1:n.*25G>C | |
| NM_005430.4:c.*25G>C MANE Select | NP_005421.1:n.*25G>C |