Linked Data
dbSNP Id:
rs1348799958
gnomAD v4:
16-3729038-G-T
MyVariant Identifiers:
chr16:g.3779039G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3729038G>T , CM000678.2:g.3729038G>T | GRCh38 |
| NC_000016.9:g.3779039G>T , CM000678.1:g.3779039G>T | GRCh37 |
| NC_000016.8:g.3719040G>T | NCBI36 |
| NG_009873.1:g.156083C>A | |
| NG_009873.2:g.156676C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.6009C>A MANE Select | ENSP00000262367.5:p.Pro2003= | |
| ENST00000262367.9:c.6009C>A | ENSP00000262367.5:p.Pro2003= | |
| ENST00000382070.7:c.5895C>A | ENSP00000371502.3:p.Pro1965= | |
| NM_001079846.1:c.5895C>A | NP_001073315.1:p.Pro1965= | |
| NM_004380.2:c.6009C>A | NP_004371.2:p.Pro2003= | |
| XM_005255124.3:c.5964C>A | XP_005255181.1:p.Pro1988= | |
| XM_005255125.3:c.5592C>A | XP_005255182.1:p.Pro1864= | |
| XM_006720848.2:c.5748C>A | XP_006720911.1:p.Pro1916= | |
| XM_011522380.1:c.5955C>A | XP_011520682.1:p.Pro1985= | |
| XM_011522381.1:c.5256C>A | XP_011520683.1:p.Pro1752= | |
| XM_005255124.4:c.5964C>A | XP_005255181.1:p.Pro1988= | |
| XM_005255125.4:c.5592C>A | XP_005255182.1:p.Pro1864= | |
| XM_006720848.3:c.5748C>A | XP_006720911.1:p.Pro1916= | |
| XM_011522381.2:c.5256C>A | XP_011520683.1:p.Pro1752= | |
| XM_017022944.1:c.6003C>A | XP_016878433.1:p.Pro2001= | |
| NM_004380.3:c.6009C>A MANE Select | NP_004371.2:p.Pro2003= |