Linked Data
dbSNP Id:
rs2051791852
gnomAD v4:
16-3727967-A-G
MyVariant Identifiers:
chr16:g.3777968A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3727967A>G , CM000678.2:g.3727967A>G | GRCh38 |
| NC_000016.9:g.3777968A>G , CM000678.1:g.3777968A>G | GRCh37 |
| NC_000016.8:g.3717969A>G | NCBI36 |
| NG_009873.1:g.157154T>C | |
| NG_009873.2:g.157747T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.7080T>C MANE Select | ENSP00000262367.5:p.His2360= | |
| ENST00000262367.9:c.7080T>C | ENSP00000262367.5:p.His2360= | |
| ENST00000382070.7:c.6966T>C | ENSP00000371502.3:p.His2322= | |
| NM_001079846.1:c.6966T>C | NP_001073315.1:p.His2322= | |
| NM_004380.2:c.7080T>C | NP_004371.2:p.His2360= | |
| XM_005255124.3:c.7035T>C | XP_005255181.1:p.His2345= | |
| XM_005255125.3:c.6663T>C | XP_005255182.1:p.His2221= | |
| XM_006720848.2:c.6819T>C | XP_006720911.1:p.His2273= | |
| XM_011522380.1:c.7026T>C | XP_011520682.1:p.His2342= | |
| XM_011522381.1:c.6327T>C | XP_011520683.1:p.His2109= | |
| XM_005255124.4:c.7035T>C | XP_005255181.1:p.His2345= | |
| XM_005255125.4:c.6663T>C | XP_005255182.1:p.His2221= | |
| XM_006720848.3:c.6819T>C | XP_006720911.1:p.His2273= | |
| XM_011522381.2:c.6327T>C | XP_011520683.1:p.His2109= | |
| XM_017022944.1:c.7074T>C | XP_016878433.1:p.His2358= | |
| NM_004380.3:c.7080T>C MANE Select | NP_004371.2:p.His2360= |