Linked Data
gnomAD v4:
7-20164266-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.20164266C>A , CM000669.2:g.20164266C>A | GRCh38 |
| NC_000007.13:g.20203889C>A , CM000669.1:g.20203889C>A | GRCh37 |
| NC_000007.12:g.20170414C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400331.10:c.-19G>T MANE Select | ENSP00000383185.3:n.-19G>T | |
| ENST00000332878.8:c.-8-2396G>T | ENSP00000328410.4:n.-8-2396G>T | |
| ENST00000400331.9:c.-19G>T | ENSP00000383185.3:n.-19G>T | |
| ENST00000589011.1:c.-8-2396G>T | ENSP00000466864.1:n.-8-2396G>T | |
| NM_182762.3:c.-19G>T | NP_877439.3:n.-19G>T | |
| NM_182762.4:c.-19G>T MANE Select | NP_877439.3:n.-19G>T |