Linked Data
gnomAD v4:
7-20164277-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.20164277G>T , CM000669.2:g.20164277G>T | GRCh38 |
| NC_000007.13:g.20203900G>T , CM000669.1:g.20203900G>T | GRCh37 |
| NC_000007.12:g.20170425G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400331.10:c.-30C>A MANE Select | ENSP00000383185.3:n.-30C>A | |
| ENST00000332878.8:c.-8-2407C>A | ENSP00000328410.4:n.-8-2407C>A | |
| ENST00000400331.9:c.-30C>A | ENSP00000383185.3:n.-30C>A | |
| ENST00000589011.1:c.-8-2407C>A | ENSP00000466864.1:n.-8-2407C>A | |
| NM_182762.3:c.-30C>A | NP_877439.3:n.-30C>A | |
| NM_182762.4:c.-30C>A MANE Select | NP_877439.3:n.-30C>A |