Linked Data
dbSNP Id:
rs2151304885
gnomAD v4:
16-3728747-G-A
MyVariant Identifiers:
chr16:g.3778748G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728747G>A , CM000678.2:g.3728747G>A | GRCh38 |
| NC_000016.9:g.3778748G>A , CM000678.1:g.3778748G>A | GRCh37 |
| NC_000016.8:g.3718749G>A | NCBI36 |
| NG_009873.1:g.156374C>T | |
| NG_009873.2:g.156967C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.6300C>T MANE Select | ENSP00000262367.5:p.Phe2100= | |
| ENST00000262367.9:c.6300C>T | ENSP00000262367.5:p.Phe2100= | |
| ENST00000382070.7:c.6186C>T | ENSP00000371502.3:p.Phe2062= | |
| NM_001079846.1:c.6186C>T | NP_001073315.1:p.Phe2062= | |
| NM_004380.2:c.6300C>T | NP_004371.2:p.Phe2100= | |
| XM_005255124.3:c.6255C>T | XP_005255181.1:p.Phe2085= | |
| XM_005255125.3:c.5883C>T | XP_005255182.1:p.Phe1961= | |
| XM_006720848.2:c.6039C>T | XP_006720911.1:p.Phe2013= | |
| XM_011522380.1:c.6246C>T | XP_011520682.1:p.Phe2082= | |
| XM_011522381.1:c.5547C>T | XP_011520683.1:p.Phe1849= | |
| XM_005255124.4:c.6255C>T | XP_005255181.1:p.Phe2085= | |
| XM_005255125.4:c.5883C>T | XP_005255182.1:p.Phe1961= | |
| XM_006720848.3:c.6039C>T | XP_006720911.1:p.Phe2013= | |
| XM_011522381.2:c.5547C>T | XP_011520683.1:p.Phe1849= | |
| XM_017022944.1:c.6294C>T | XP_016878433.1:p.Phe2098= | |
| NM_004380.3:c.6300C>T MANE Select | NP_004371.2:p.Phe2100= |