Linked Data
dbSNP Id:
rs2086354734
gnomAD v4:
16-27362924-G-A
MyVariant Identifiers:
chr16:g.27374245G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.27362924G>A , CM000678.2:g.27362924G>A | GRCh38 |
| NC_000016.9:g.27374245G>A , CM000678.1:g.27374245G>A | GRCh37 |
| NC_000016.8:g.27281746G>A | NCBI36 |
| NG_012086.1:g.53995G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395762.7:c.1572G>A MANE Select | ENSP00000379111.2:p.Glu524= | |
| ENST00000170630.6:c.1527G>A | ENSP00000170630.3:p.Glu509= | |
| ENST00000395762.6:c.1572G>A | ENSP00000379111.2:p.Glu524= | |
| ENST00000543915.6:c.1572G>A | ENSP00000441667.2:p.Glu524= | |
| ENST00000565352.1:c.230-1179G>A | ENSP00000461268.1:n.230-1179G>A | |
| ENST00000568746.5:c.*1615G>A | ENSP00000455714.1:n.*1615G>A | |
| NM_000418.3:c.1572G>A | NP_000409.1:p.Glu524= | |
| NM_001257406.1:c.1572G>A | NP_001244335.1:p.Glu524= | |
| NM_001257407.1:c.1527G>A | NP_001244336.1:p.Glu509= | |
| NM_001257997.1:c.1092G>A | NP_001244926.1:p.Glu364= | |
| XM_005255308.2:c.681G>A | XP_005255365.1:p.Glu227= | |
| XM_006721043.1:c.621G>A | XP_006721106.1:p.Glu207= | |
| XM_011545825.1:c.1572G>A | XP_011544127.1:p.Glu524= | |
| XM_011545826.1:c.1572G>A | XP_011544128.1:p.Glu524= | |
| XM_011545827.1:c.1572G>A | XP_011544129.1:p.Glu524= | |
| XM_011545828.1:c.1305G>A | XP_011544130.1:p.Glu435= | |
| XM_011545829.1:c.1275G>A | XP_011544131.1:p.Glu425= | |
| XM_011545830.1:c.1275G>A | XP_011544132.1:p.Glu425= | |
| XM_011545831.1:c.1275G>A | XP_011544133.1:p.Glu425= | |
| XM_011545832.1:c.1275G>A | XP_011544134.1:p.Glu425= | |
| XM_011545833.1:c.1275G>A | XP_011544135.1:p.Glu425= | |
| XM_011545834.1:c.1149G>A | XP_011544136.1:p.Glu383= | |
| XM_011545826.2:c.1572G>A | XP_011544128.1:p.Glu524= | |
| XM_011545827.2:c.1572G>A | XP_011544129.1:p.Glu524= | |
| XM_011545828.2:c.1305G>A | XP_011544130.1:p.Glu435= | |
| XM_011545830.2:c.1275G>A | XP_011544132.1:p.Glu425= | |
| XM_011545833.2:c.1275G>A | XP_011544135.1:p.Glu425= | |
| XM_011545834.2:c.1149G>A | XP_011544136.1:p.Glu383= | |
| NM_000418.4:c.1572G>A MANE Select | NP_000409.1:p.Glu524= | |
| NM_001257406.2:c.1572G>A | NP_001244335.1:p.Glu524= | |
| NM_001257407.2:c.1527G>A | NP_001244336.1:p.Glu509= | |
| NM_001257997.2:c.1092G>A | NP_001244926.1:p.Glu364= |