Linked Data
dbSNP Id:
rs748189948
ExAC:
16:67973930 C / A
gnomAD v2:
16-67973930-C-A
gnomAD v4:
16-67940027-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940027C>A , CM000678.2:g.67940027C>A | GRCh38 |
| NC_000016.9:g.67973930C>A , CM000678.1:g.67973930C>A | GRCh37 |
| NC_000016.8:g.66531431C>A | NCBI36 |
| NG_009778.1:g.9086G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.1200G>T MANE Select | ENSP00000264005.5:p.Gln400His | |
| ENST00000264005.9:c.1200G>T | ENSP00000264005.5:p.Gln400His | |
| ENST00000570369.5:c.203G>T | ||
| ENST00000573538.5:c.938G>T | ENSP00000463220.1:n.938G>T | |
| NM_000229.1:c.1200G>T | NP_000220.1:p.Gln400His | |
| NM_000229.2:c.1200G>T MANE Select | NP_000220.1:p.Gln400His |