Linked Data
MyVariant Identifiers:
chr16:g.74750471G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74716573G>T , CM000678.2:g.74716573G>T | GRCh38 |
| NC_000016.9:g.74750471G>T , CM000678.1:g.74750471G>T | GRCh37 |
| NC_000016.8:g.73307972G>T | NCBI36 |
| NG_017070.1:g.63259C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219368.8:c.813C>A MANE Select | ENSP00000219368.3:p.Val271= | |
| ENST00000219368.7:c.813C>A | ENSP00000219368.3:p.Val271= | |
| ENST00000562145.1:n.534C>A | ||
| ENST00000567683.5:c.*92C>A | ENSP00000455126.1:n.*92C>A | |
| NM_024306.4:c.813C>A | NP_077282.3:p.Val271= | |
| XM_011523319.1:c.573C>A | XP_011521621.1:p.Val191= | |
| XM_011523317.3:c.*1677C>A | XP_011521619.1:n.*1677C>A | |
| XM_011523319.2:c.573C>A | XP_011521621.1:p.Val191= | |
| NM_024306.5:c.813C>A MANE Select | NP_077282.3:p.Val271= |