Linked Data
gnomAD v4:
16-88427391-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88427391G>A , CM000678.2:g.88427391G>A | GRCh38 |
| NC_000016.9:g.88493799G>A , CM000678.1:g.88493799G>A | GRCh37 |
| NC_000016.8:g.87021300G>A | NCBI36 |
| NG_012236.2:g.4921G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000565624.3:c.-80G>A MANE Select | ENSP00000456500.2:n.-80G>A | |
| XM_011523386.1:c.-80G>A | XP_011521688.1:n.-80G>A | |
| XM_011523387.1:c.-80G>A | XP_011521689.1:n.-80G>A | |
| XM_011523388.1:c.-80G>A | XP_011521690.1:n.-80G>A | |
| XM_017023784.1:c.-80G>A | XP_016879273.1:n.-80G>A | |
| XM_017023785.1:c.-80G>A | XP_016879274.1:n.-80G>A | |
| XR_002957934.1:n.250+2573C>T | ||
| NM_001367624.2:c.-80G>A MANE Select | NP_001354553.1:n.-80G>A |