Linked Data
dbSNP Id:
rs147688139
ExAC:
16:3786813 A / G
gnomAD v2:
16-3786813-A-G
gnomAD v3:
16-3736812-A-G
gnomAD v4:
16-3736812-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3736812A>G , CM000678.2:g.3736812A>G | GRCh38 |
| NC_000016.9:g.3786813A>G , CM000678.1:g.3786813A>G | GRCh37 |
| NC_000016.8:g.3726814A>G | NCBI36 |
| NG_009873.1:g.148309T>C | |
| NG_009873.2:g.148902T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.4398T>C MANE Select | ENSP00000262367.5:p.Tyr1466= | |
| ENST00000262367.9:c.4398T>C | ENSP00000262367.5:p.Tyr1466= | |
| ENST00000382070.7:c.4284T>C | ENSP00000371502.3:p.Tyr1428= | |
| ENST00000570939.2:c.3033T>C | ENSP00000461002.2:p.Tyr1011= | |
| ENST00000571763.5:n.188T>C | ||
| ENST00000574740.1:n.219T>C | ||
| ENST00000576720.1:n.3221T>C | ||
| NM_001079846.1:c.4284T>C | NP_001073315.1:p.Tyr1428= | |
| NM_004380.2:c.4398T>C | NP_004371.2:p.Tyr1466= | |
| XM_005255124.3:c.4353T>C | XP_005255181.1:p.Tyr1451= | |
| XM_005255125.3:c.3981T>C | XP_005255182.1:p.Tyr1327= | |
| XM_006720848.2:c.4137T>C | XP_006720911.1:p.Tyr1379= | |
| XM_011522380.1:c.4344T>C | XP_011520682.1:p.Tyr1448= | |
| XM_011522381.1:c.3645T>C | XP_011520683.1:p.Tyr1215= | |
| XM_005255124.4:c.4353T>C | XP_005255181.1:p.Tyr1451= | |
| XM_005255125.4:c.3981T>C | XP_005255182.1:p.Tyr1327= | |
| XM_006720848.3:c.4137T>C | XP_006720911.1:p.Tyr1379= | |
| XM_011522381.2:c.3645T>C | XP_011520683.1:p.Tyr1215= | |
| XM_017022944.1:c.4392T>C | XP_016878433.1:p.Tyr1464= | |
| NM_004380.3:c.4398T>C MANE Select | NP_004371.2:p.Tyr1466= |