Linked Data
dbSNP Id:
rs1915326964
gnomAD v4:
16-89179481-G-A
MyVariant Identifiers:
chr16:g.89245889G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89179481G>A , CM000678.2:g.89179481G>A | GRCh38 |
| NC_000016.9:g.89245889G>A , CM000678.1:g.89245889G>A | GRCh37 |
| NC_000016.8:g.87773390G>A | NCBI36 |
| NG_012055.1:g.12727G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289746.3:c.108G>A MANE Select | ENSP00000289746.2:p.Arg36= | |
| ENST00000289746.2:c.108G>A | ENSP00000289746.2:p.Arg36= | |
| ENST00000521087.5:n.173G>A | ||
| ENST00000524089.1:n.173G>A | ||
| NM_004933.2:c.108G>A | NP_004924.1:p.Arg36= | |
| XM_011522806.1:c.108G>A | XP_011521108.1:p.Arg36= | |
| NM_004933.3:c.108G>A MANE Select | NP_004924.1:p.Arg36= |