Linked Data
dbSNP Id:
rs2051792297
gnomAD v3:
16-3727973-A-T
gnomAD v4:
16-3727973-A-T
MyVariant Identifiers:
chr16:g.3777974A>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3727973A>T , CM000678.2:g.3727973A>T | GRCh38 |
| NC_000016.9:g.3777974A>T , CM000678.1:g.3777974A>T | GRCh37 |
| NC_000016.8:g.3717975A>T | NCBI36 |
| NG_009873.1:g.157148T>A | |
| NG_009873.2:g.157741T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.7074T>A MANE Select | ENSP00000262367.5:p.Pro2358= | |
| ENST00000262367.9:c.7074T>A | ENSP00000262367.5:p.Pro2358= | |
| ENST00000382070.7:c.6960T>A | ENSP00000371502.3:p.Pro2320= | |
| NM_001079846.1:c.6960T>A | NP_001073315.1:p.Pro2320= | |
| NM_004380.2:c.7074T>A | NP_004371.2:p.Pro2358= | |
| XM_005255124.3:c.7029T>A | XP_005255181.1:p.Pro2343= | |
| XM_005255125.3:c.6657T>A | XP_005255182.1:p.Pro2219= | |
| XM_006720848.2:c.6813T>A | XP_006720911.1:p.Pro2271= | |
| XM_011522380.1:c.7020T>A | XP_011520682.1:p.Pro2340= | |
| XM_011522381.1:c.6321T>A | XP_011520683.1:p.Pro2107= | |
| XM_005255124.4:c.7029T>A | XP_005255181.1:p.Pro2343= | |
| XM_005255125.4:c.6657T>A | XP_005255182.1:p.Pro2219= | |
| XM_006720848.3:c.6813T>A | XP_006720911.1:p.Pro2271= | |
| XM_011522381.2:c.6321T>A | XP_011520683.1:p.Pro2107= | |
| XM_017022944.1:c.7068T>A | XP_016878433.1:p.Pro2356= | |
| NM_004380.3:c.7074T>A MANE Select | NP_004371.2:p.Pro2358= |