Linked Data
gnomAD v4:
7-20164271-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.20164271G>A , CM000669.2:g.20164271G>A | GRCh38 |
| NC_000007.13:g.20203894G>A , CM000669.1:g.20203894G>A | GRCh37 |
| NC_000007.12:g.20170419G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400331.10:c.-24C>T MANE Select | ENSP00000383185.3:n.-24C>T | |
| ENST00000332878.8:c.-8-2401C>T | ENSP00000328410.4:n.-8-2401C>T | |
| ENST00000400331.9:c.-24C>T | ENSP00000383185.3:n.-24C>T | |
| ENST00000589011.1:c.-8-2401C>T | ENSP00000466864.1:n.-8-2401C>T | |
| NM_182762.3:c.-24C>T | NP_877439.3:n.-24C>T | |
| NM_182762.4:c.-24C>T MANE Select | NP_877439.3:n.-24C>T |