Linked Data
dbSNP Id:
rs754336198
gnomAD v4:
16-3729206-G-T
MyVariant Identifiers:
chr16:g.3779207G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3729206G>T , CM000678.2:g.3729206G>T | GRCh38 |
| NC_000016.9:g.3779207G>T , CM000678.1:g.3779207G>T | GRCh37 |
| NC_000016.8:g.3719208G>T | NCBI36 |
| NG_009873.1:g.155915C>A | |
| NG_009873.2:g.156508C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.5841C>A MANE Select | ENSP00000262367.5:p.Pro1947= | |
| ENST00000262367.9:c.5841C>A | ENSP00000262367.5:p.Pro1947= | |
| ENST00000382070.7:c.5727C>A | ENSP00000371502.3:p.Pro1909= | |
| NM_001079846.1:c.5727C>A | NP_001073315.1:p.Pro1909= | |
| NM_004380.2:c.5841C>A | NP_004371.2:p.Pro1947= | |
| XM_005255124.3:c.5796C>A | XP_005255181.1:p.Pro1932= | |
| XM_005255125.3:c.5424C>A | XP_005255182.1:p.Pro1808= | |
| XM_006720848.2:c.5580C>A | XP_006720911.1:p.Pro1860= | |
| XM_011522380.1:c.5787C>A | XP_011520682.1:p.Pro1929= | |
| XM_011522381.1:c.5088C>A | XP_011520683.1:p.Pro1696= | |
| XM_005255124.4:c.5796C>A | XP_005255181.1:p.Pro1932= | |
| XM_005255125.4:c.5424C>A | XP_005255182.1:p.Pro1808= | |
| XM_006720848.3:c.5580C>A | XP_006720911.1:p.Pro1860= | |
| XM_011522381.2:c.5088C>A | XP_011520683.1:p.Pro1696= | |
| XM_017022944.1:c.5835C>A | XP_016878433.1:p.Pro1945= | |
| NM_004380.3:c.5841C>A MANE Select | NP_004371.2:p.Pro1947= |