Linked Data
gnomAD v4:
16-74713625-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74713625C>A , CM000678.2:g.74713625C>A | GRCh38 |
| NC_000016.9:g.74747523C>A , CM000678.1:g.74747523C>A | GRCh37 |
| NC_000016.8:g.73305024C>A | NCBI36 |
| NG_017070.1:g.66207G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219368.8:c.*565G>T MANE Select | ENSP00000219368.3:n.*565G>T | |
| ENST00000219368.7:c.*565G>T | ENSP00000219368.3:n.*565G>T | |
| ENST00000562145.1:n.1405G>T | ||
| ENST00000567683.5:c.*963G>T | ENSP00000455126.1:n.*963G>T | |
| NM_024306.4:c.*565G>T | NP_077282.3:n.*565G>T | |
| XM_011523319.1:c.*565G>T | XP_011521621.1:n.*565G>T | |
| XM_011523319.2:c.*565G>T | XP_011521621.1:n.*565G>T | |
| NM_024306.5:c.*565G>T MANE Select | NP_077282.3:n.*565G>T |