Linked Data
dbSNP Id:
rs2056508209
gnomAD v4:
16-30987871-G-A
MyVariant Identifiers:
chr16:g.30999192G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30987871G>A , CM000678.2:g.30987871G>A | GRCh38 |
| NC_000016.9:g.30999192G>A , CM000678.1:g.30999192G>A | GRCh37 |
| NC_000016.8:g.30906693G>A | NCBI36 |
| NG_012346.1:g.7674G>A | |
| NG_041829.1:g.27638C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297679.10:c.798G>A MANE Select | ENSP00000297679.5:p.Arg266= | |
| ENST00000262520.10:c.*44G>A | ENSP00000262520.6:n.*44G>A | |
| ENST00000297679.9:c.798G>A | ENSP00000297679.5:p.Arg266= | |
| NM_001142777.1:c.*44G>A | NP_001136249.1:n.*44G>A | |
| NM_001142778.1:c.*44G>A | NP_001136250.1:n.*44G>A | |
| NM_025193.3:c.798G>A | NP_079469.2:p.Arg266= | |
| XM_005255601.3:c.798G>A | XP_005255658.2:p.Arg266= | |
| XM_011545960.1:c.798G>A | XP_011544262.1:p.Arg266= | |
| XM_011545961.1:c.798G>A | XP_011544263.1:p.Arg266= | |
| XM_011545962.1:c.*44G>A | XP_011544264.1:n.*44G>A | |
| XM_011545960.2:c.798G>A | XP_011544262.1:p.Arg266= | |
| XM_011545962.2:c.*44G>A | XP_011544264.1:n.*44G>A | |
| XM_017023732.1:c.*44G>A | XP_016879221.1:n.*44G>A | |
| NM_025193.4:c.798G>A MANE Select | NP_079469.2:p.Arg266= | |
| NM_001142777.2:c.*44G>A | NP_001136249.1:n.*44G>A | |
| NM_001142778.2:c.*44G>A | NP_001136250.1:n.*44G>A |