Linked Data
dbSNP Id:
rs199524407
ExAC:
16:3779798 A / G
gnomAD v2:
16-3779798-A-G
gnomAD v3:
16-3729797-A-G
gnomAD v4:
16-3729797-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3729797A>G , CM000678.2:g.3729797A>G | GRCh38 |
| NC_000016.9:g.3779798A>G , CM000678.1:g.3779798A>G | GRCh37 |
| NC_000016.8:g.3719799A>G | NCBI36 |
| NG_009873.1:g.155324T>C | |
| NG_009873.2:g.155917T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.5250T>C MANE Select | ENSP00000262367.5:p.Asp1750= | |
| ENST00000262367.9:c.5250T>C | ENSP00000262367.5:p.Asp1750= | |
| ENST00000382070.7:c.5136T>C | ENSP00000371502.3:p.Asp1712= | |
| NM_001079846.1:c.5136T>C | NP_001073315.1:p.Asp1712= | |
| NM_004380.2:c.5250T>C | NP_004371.2:p.Asp1750= | |
| XM_005255124.3:c.5205T>C | XP_005255181.1:p.Asp1735= | |
| XM_005255125.3:c.4833T>C | XP_005255182.1:p.Asp1611= | |
| XM_006720848.2:c.4989T>C | XP_006720911.1:p.Asp1663= | |
| XM_011522380.1:c.5196T>C | XP_011520682.1:p.Asp1732= | |
| XM_011522381.1:c.4497T>C | XP_011520683.1:p.Asp1499= | |
| XM_005255124.4:c.5205T>C | XP_005255181.1:p.Asp1735= | |
| XM_005255125.4:c.4833T>C | XP_005255182.1:p.Asp1611= | |
| XM_006720848.3:c.4989T>C | XP_006720911.1:p.Asp1663= | |
| XM_011522381.2:c.4497T>C | XP_011520683.1:p.Asp1499= | |
| XM_017022944.1:c.5244T>C | XP_016878433.1:p.Asp1748= | |
| NM_004380.3:c.5250T>C MANE Select | NP_004371.2:p.Asp1750= |