Linked Data
gnomAD v4:
10-114044047-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114044047G>C , CM000672.2:g.114044047G>C | GRCh38 |
| NC_000010.10:g.115803806G>C , CM000672.1:g.115803806G>C | GRCh37 |
| NC_000010.9:g.115793796G>C | NCBI36 |
| NG_012187.1:g.5001G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.-86G>C MANE Select | ENSP00000358301.2:n.-86G>C | |
| NM_000684.2:c.-86G>C | NP_000675.1:n.-86G>C | |
| NM_000684.3:c.-86G>C MANE Select | NP_000675.1:n.-86G>C |