Linked Data
gnomAD v4:
1-241848002-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241848002T>C , CM000663.2:g.241848002T>C | GRCh38 |
| NC_000001.10:g.242011304T>C , CM000663.1:g.242011304T>C | GRCh37 |
| NC_000001.9:g.240077927T>C | NCBI36 |
| NG_029100.1:g.4812T>C | |
| NG_029100.2:g.4812T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000519225.5:c.-513T>C | ENSP00000429720.1:n.-513T>C | |
| XM_011544322.1:c.-513T>C | XP_011542624.1:n.-513T>C |