Linked Data
dbSNP Id:
rs777115831
ExAC:
16:3777947 T / C
gnomAD v2:
16-3777947-T-C
gnomAD v4:
16-3727946-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3727946T>C , CM000678.2:g.3727946T>C | GRCh38 |
| NC_000016.9:g.3777947T>C , CM000678.1:g.3777947T>C | GRCh37 |
| NC_000016.8:g.3717948T>C | NCBI36 |
| NG_009873.1:g.157175A>G | |
| NG_009873.2:g.157768A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.7101A>G MANE Select | ENSP00000262367.5:p.Ile2367Met | |
| ENST00000262367.9:c.7101A>G | ENSP00000262367.5:p.Ile2367Met | |
| ENST00000382070.7:c.6987A>G | ENSP00000371502.3:p.Ile2329Met | |
| NM_001079846.1:c.6987A>G | NP_001073315.1:p.Ile2329Met | |
| NM_004380.2:c.7101A>G | NP_004371.2:p.Ile2367Met | |
| XM_005255124.3:c.7056A>G | XP_005255181.1:p.Ile2352Met | |
| XM_005255125.3:c.6684A>G | XP_005255182.1:p.Ile2228Met | |
| XM_006720848.2:c.6840A>G | XP_006720911.1:p.Ile2280Met | |
| XM_011522380.1:c.7047A>G | XP_011520682.1:p.Ile2349Met | |
| XM_011522381.1:c.6348A>G | XP_011520683.1:p.Ile2116Met | |
| XM_005255124.4:c.7056A>G | XP_005255181.1:p.Ile2352Met | |
| XM_005255125.4:c.6684A>G | XP_005255182.1:p.Ile2228Met | |
| XM_006720848.3:c.6840A>G | XP_006720911.1:p.Ile2280Met | |
| XM_011522381.2:c.6348A>G | XP_011520683.1:p.Ile2116Met | |
| XM_017022944.1:c.7095A>G | XP_016878433.1:p.Ile2365Met | |
| NM_004380.3:c.7101A>G MANE Select | NP_004371.2:p.Ile2367Met |