Linked Data
gnomAD v4:
16-46698054-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.46698054G>A , CM000678.2:g.46698054G>A | GRCh38 |
| NC_000016.9:g.46731966G>A , CM000678.1:g.46731966G>A | GRCh37 |
| NC_000016.8:g.45289467G>A | NCBI36 |
| NG_028241.1:g.13409G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219097.7:c.*469G>A MANE Select | ENSP00000219097.2:n.*469G>A | |
| ENST00000219097.6:c.*469G>A | ENSP00000219097.2:n.*469G>A | |
| ENST00000566860.1:c.*469G>A | ENSP00000456981.1:n.*469G>A | |
| ENST00000567000.2:n.1232G>A | ||
| NM_014321.3:c.*469G>A | NP_055136.1:n.*469G>A | |
| NR_037620.1:n.1347G>A | ||
| NM_014321.4:c.*469G>A MANE Select | NP_055136.1:n.*469G>A | |
| NR_037620.2:n.1334G>A |