Linked Data
gnomAD v4:
10-114044054-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114044054G>A , CM000672.2:g.114044054G>A | GRCh38 |
| NC_000010.10:g.115803813G>A , CM000672.1:g.115803813G>A | GRCh37 |
| NC_000010.9:g.115793803G>A | NCBI36 |
| NG_012187.1:g.5008G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.-79G>A MANE Select | ENSP00000358301.2:n.-79G>A | |
| NM_000684.2:c.-79G>A | NP_000675.1:n.-79G>A | |
| NM_000684.3:c.-79G>A MANE Select | NP_000675.1:n.-79G>A |