Linked Data
dbSNP Id:
rs751640745
ExAC:
16:3778043 G / T
gnomAD v2:
16-3778043-G-T
gnomAD v3:
16-3728042-G-T
gnomAD v4:
16-3728042-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728042G>T , CM000678.2:g.3728042G>T | GRCh38 |
| NC_000016.9:g.3778043G>T , CM000678.1:g.3778043G>T | GRCh37 |
| NC_000016.8:g.3718044G>T | NCBI36 |
| NG_009873.1:g.157079C>A | |
| NG_009873.2:g.157672C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.7005C>A MANE Select | ENSP00000262367.5:p.Ile2335= | |
| ENST00000262367.9:c.7005C>A | ENSP00000262367.5:p.Ile2335= | |
| ENST00000382070.7:c.6891C>A | ENSP00000371502.3:p.Ile2297= | |
| NM_001079846.1:c.6891C>A | NP_001073315.1:p.Ile2297= | |
| NM_004380.2:c.7005C>A | NP_004371.2:p.Ile2335= | |
| XM_005255124.3:c.6960C>A | XP_005255181.1:p.Ile2320= | |
| XM_005255125.3:c.6588C>A | XP_005255182.1:p.Ile2196= | |
| XM_006720848.2:c.6744C>A | XP_006720911.1:p.Ile2248= | |
| XM_011522380.1:c.6951C>A | XP_011520682.1:p.Ile2317= | |
| XM_011522381.1:c.6252C>A | XP_011520683.1:p.Ile2084= | |
| XM_005255124.4:c.6960C>A | XP_005255181.1:p.Ile2320= | |
| XM_005255125.4:c.6588C>A | XP_005255182.1:p.Ile2196= | |
| XM_006720848.3:c.6744C>A | XP_006720911.1:p.Ile2248= | |
| XM_011522381.2:c.6252C>A | XP_011520683.1:p.Ile2084= | |
| XM_017022944.1:c.6999C>A | XP_016878433.1:p.Ile2333= | |
| NM_004380.3:c.7005C>A MANE Select | NP_004371.2:p.Ile2335= |