Linked Data
dbSNP Id:
rs748294241
ExAC:
16:74808334 A / C
gnomAD v2:
16-74808334-A-C
gnomAD v4:
16-74774436-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74774436A>C , CM000678.2:g.74774436A>C | GRCh38 |
| NC_000016.9:g.74808334A>C , CM000678.1:g.74808334A>C | GRCh37 |
| NC_000016.8:g.73365835A>C | NCBI36 |
| NG_017070.1:g.5396T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219368.8:c.270+50T>G MANE Select | ENSP00000219368.3:n.270+50T>G | |
| ENST00000219368.7:c.270+50T>G | ENSP00000219368.3:n.270+50T>G | |
| ENST00000567683.5:c.270+50T>G | ENSP00000455126.1:n.270+50T>G | |
| NM_024306.4:c.270+50T>G | NP_077282.3:n.270+50T>G | |
| XM_011523317.1:c.270+50T>G | XP_011521619.1:n.270+50T>G | |
| XM_011523318.1:c.270+50T>G | XP_011521620.1:n.270+50T>G | |
| XM_011523317.3:c.270+50T>G | XP_011521619.1:n.270+50T>G | |
| NM_024306.5:c.270+50T>G MANE Select | NP_077282.3:n.270+50T>G |