Linked Data
dbSNP Id:
rs750551944
ExAC:
16:67974270 T / C
gnomAD v2:
16-67974270-T-C
gnomAD v4:
16-67940367-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940367T>C , CM000678.2:g.67940367T>C | GRCh38 |
| NC_000016.9:g.67974270T>C , CM000678.1:g.67974270T>C | GRCh37 |
| NC_000016.8:g.66531771T>C | NCBI36 |
| NG_009778.1:g.8746A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.860A>G MANE Select | ENSP00000264005.5:p.His287Arg | |
| ENST00000264005.9:c.860A>G | ENSP00000264005.5:p.His287Arg | |
| ENST00000570369.5:c.156-293A>G | ||
| ENST00000570980.1:c.644A>G | ENSP00000464651.1:p.His215Arg | |
| ENST00000573538.5:c.598A>G | ENSP00000463220.1:n.598A>G | |
| NM_000229.1:c.860A>G | NP_000220.1:p.His287Arg | |
| NM_000229.2:c.860A>G MANE Select | NP_000220.1:p.His287Arg |