Linked Data
ClinVar Variation Id:
3210133
ClinVar RCV Id:
RCV004500557
dbSNP Id:
rs201862537
ExAC:
16:14339396 A / G
gnomAD v2:
16-14339396-A-G
gnomAD v3:
16-14245539-A-G
gnomAD v4:
16-14245539-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.14245539A>G , CM000678.2:g.14245539A>G | GRCh38 |
| NC_000016.9:g.14339396A>G , CM000678.1:g.14339396A>G | GRCh37 |
| NC_000016.8:g.14246897A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000571589.6:c.1091A>G MANE Select | ENSP00000459626.2:p.Asp364Gly | |
| ENST00000318282.9:c.1091A>G | ENSP00000339086.4:p.Asp364Gly | |
| ENST00000571589.5:c.1091A>G | ENSP00000459626.1:p.Asp364Gly | |
| ENST00000574045.5:c.1091A>G | ENSP00000459205.1:p.Asp364Gly | |
| NM_001308142.1:c.1091A>G | NP_001295071.1:p.Asp364Gly | |
| NM_014048.3:c.1091A>G | NP_054767.3:p.Asp364Gly | |
| NM_014048.4:c.1091A>G | NP_054767.3:p.Asp364Gly | |
| XM_005255452.2:c.1091A>G | XP_005255509.1:p.Asp364Gly | |
| XM_005255453.3:c.1091A>G | XP_005255510.1:p.Asp364Gly | |
| XM_005255455.2:c.1058A>G | XP_005255512.1:p.Asp353Gly | |
| XM_006720908.2:c.1091A>G | XP_006720971.1:p.Asp364Gly | |
| XM_006720909.2:c.1091A>G | XP_006720972.1:p.Asp364Gly | |
| XM_006720912.2:c.1004A>G | XP_006720975.1:p.Asp335Gly | |
| XM_006720913.1:c.1091A>G | XP_006720976.1:p.Asp364Gly | |
| XM_006720914.1:c.1091A>G | XP_006720977.1:p.Asp364Gly | |
| XM_011522568.1:c.1091A>G | XP_011520870.1:p.Asp364Gly | |
| XM_011522569.1:c.878A>G | XP_011520871.1:p.Asp293Gly | |
| NM_001365411.1:c.1058A>G | NP_001352340.1:p.Asp353Gly | |
| NM_001365412.1:c.1091A>G | NP_001352341.1:p.Asp364Gly | |
| NM_001365413.1:c.878A>G | NP_001352342.1:p.Asp293Gly | |
| NM_001365414.1:c.878A>G | NP_001352343.1:p.Asp293Gly | |
| XM_005255452.3:c.1091A>G | XP_005255509.1:p.Asp364Gly | |
| XM_005255453.5:c.1091A>G | XP_005255510.1:p.Asp364Gly | |
| XM_006720908.4:c.1091A>G | XP_006720971.1:p.Asp364Gly | |
| XM_006720909.4:c.1091A>G | XP_006720972.1:p.Asp364Gly | |
| XM_006720912.4:c.1004A>G | XP_006720975.1:p.Asp335Gly | |
| XM_006720914.2:c.1091A>G | XP_006720977.1:p.Asp364Gly | |
| XM_011522568.2:c.1091A>G | XP_011520870.1:p.Asp364Gly | |
| XM_011522569.2:c.878A>G | XP_011520871.1:p.Asp293Gly | |
| XM_017023501.2:c.1091A>G | XP_016878990.1:p.Asp364Gly | |
| XM_017023502.1:c.1091A>G | XP_016878991.1:p.Asp364Gly | |
| XM_017023503.2:c.980A>G | XP_016878992.1:p.Asp327Gly | |
| XM_017023504.1:c.1058A>G | XP_016878993.1:p.Asp353Gly | |
| XM_017023505.2:c.1004A>G | XP_016878994.1:p.Asp335Gly | |
| NM_001308142.2:c.1091A>G MANE Select | NP_001295071.1:p.Asp364Gly | |
| NM_001365411.2:c.1058A>G | NP_001352340.1:p.Asp353Gly | |
| NM_001365412.2:c.1091A>G | NP_001352341.1:p.Asp364Gly | |
| NM_001365413.2:c.878A>G | NP_001352342.1:p.Asp293Gly | |
| NM_001365414.2:c.878A>G | NP_001352343.1:p.Asp293Gly |