Linked Data
gnomAD v4:
8-16993158-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16993158G>T , CM000670.2:g.16993158G>T | GRCh38 |
| NC_000008.10:g.16850667G>T , CM000670.1:g.16850667G>T | GRCh37 |
| NC_000008.9:g.16895038G>T | NCBI36 |
| NG_015978.1:g.14008C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000180166.6:c.550C>A MANE Select | ENSP00000180166.5:p.His184Asn | |
| ENST00000180166.5:c.550C>A | ENSP00000180166.5:p.His184Asn | |
| ENST00000519941.1:c.254C>A | ||
| NM_019851.2:c.550C>A | NP_062825.1:p.His184Asn | |
| NM_019851.3:c.550C>A MANE Select | NP_062825.1:p.His184Asn |