Linked Data
gnomAD v4:
16-1985898-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1985898G>C , CM000678.2:g.1985898G>C | GRCh38 |
| NC_000016.9:g.2035899G>C , CM000678.1:g.2035899G>C | GRCh37 |
| NC_000016.8:g.1975900G>C | NCBI36 |
| NG_016288.1:g.6750G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000567719.2:c.263G>C | ENSP00000455885.1:p.Arg88Pro | |
| ENST00000248114.7:c.488G>C MANE Select | ENSP00000248114.6:p.Arg163Pro | |
| ENST00000248114.6:c.488G>C | ENSP00000248114.6:p.Arg163Pro | |
| ENST00000565658.1:n.645G>C | ||
| ENST00000567719.1:c.263G>C | ENSP00000455885.1:p.Arg88Pro | |
| ENST00000569451.1:c.291G>C | ENSP00000456432.1:p.Pro97= | |
| NM_005262.2:c.488G>C | NP_005253.3:p.Arg163Pro | |
| NM_005262.3:c.488G>C MANE Select | NP_005253.3:p.Arg163Pro |