Linked Data
gnomAD v4:
16-74713447-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74713447G>T , CM000678.2:g.74713447G>T | GRCh38 |
| NC_000016.9:g.74747345G>T , CM000678.1:g.74747345G>T | GRCh37 |
| NC_000016.8:g.73304846G>T | NCBI36 |
| NG_017070.1:g.66385C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219368.8:c.*743C>A MANE Select | ENSP00000219368.3:n.*743C>A | |
| ENST00000219368.7:c.*743C>A | ENSP00000219368.3:n.*743C>A | |
| ENST00000562145.1:n.1583C>A | ||
| NM_024306.4:c.*743C>A | NP_077282.3:n.*743C>A | |
| XM_011523319.1:c.*743C>A | XP_011521621.1:n.*743C>A | |
| XM_011523319.2:c.*743C>A | XP_011521621.1:n.*743C>A | |
| NM_024306.5:c.*743C>A MANE Select | NP_077282.3:n.*743C>A |