Linked Data
dbSNP Id:
rs1143699
ExAC:
19:5210762 G / A
gnomAD v2:
19-5210762-G-A
gnomAD v3:
19-5210751-G-A
gnomAD v4:
19-5210751-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.5210751G>A , CM000681.2:g.5210751G>A | GRCh38 |
| NC_000019.9:g.5210762G>A , CM000681.1:g.5210762G>A | GRCh37 |
| NC_000019.8:g.5161762G>A | NCBI36 |
| NG_033964.1:g.135053C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706768.1:n.599C>T | ||
| ENST00000706769.1:n.424C>T | ||
| ENST00000262963.11:c.5289C>T MANE Select | ENSP00000262963.8:p.Asp1763= | |
| ENST00000262963.10:c.3948C>T | ENSP00000262963.7:p.Asp1316= | |
| ENST00000348075.6:c.5175C>T | ENSP00000269907.3:p.Asp1725= | |
| ENST00000353284.6:c.3960C>T | ENSP00000327313.3:p.Asp1320= | |
| ENST00000357368.8:c.5289C>T | ENSP00000349932.4:p.Asp1763= | |
| ENST00000587303.5:c.5289C>T | ENSP00000467537.1:p.Asp1763= | |
| ENST00000588012.5:c.5175C>T | ENSP00000465443.1:p.Asp1725= | |
| ENST00000588552.5:n.4230C>T | ||
| ENST00000592099.5:c.3948C>T | ENSP00000467398.1:p.Asp1316= | |
| NM_002850.3:c.5289C>T | NP_002841.3:p.Asp1763= | |
| NM_130853.2:c.3948C>T | NP_570923.2:p.Asp1316= | |
| NM_130854.2:c.5175C>T | NP_570924.2:p.Asp1725= | |
| NM_130855.2:c.3960C>T | NP_570925.2:p.Asp1320= | |
| XM_005259600.1:c.5250C>T | XP_005259657.1:p.Asp1750= | |
| XM_005259601.2:c.5250C>T | XP_005259658.1:p.Asp1750= | |
| XM_005259606.1:c.5175C>T | XP_005259663.1:p.Asp1725= | |
| XM_005259607.1:c.5163C>T | XP_005259664.1:p.Asp1721= | |
| XM_005259609.1:c.3948C>T | XP_005259666.1:p.Asp1316= | |
| XM_005259610.1:c.3936C>T | XP_005259667.1:p.Asp1312= | |
| XM_006722808.1:c.5277C>T | XP_006722871.1:p.Asp1759= | |
| XM_006722809.2:c.5277C>T | XP_006722872.1:p.Asp1759= | |
| XM_006722810.2:c.5277C>T | XP_006722873.1:p.Asp1759= | |
| XM_006722811.1:c.5265C>T | XP_006722874.1:p.Asp1755= | |
| XM_006722812.1:c.5250C>T | XP_006722875.1:p.Asp1750= | |
| XM_006722814.1:c.5229C>T | XP_006722877.1:p.Asp1743= | |
| XM_006722815.1:c.5217C>T | XP_006722878.1:p.Asp1739= | |
| XM_006722817.1:c.5190C>T | XP_006722880.1:p.Asp1730= | |
| XM_006722818.1:c.4023C>T | XP_006722881.1:p.Asp1341= | |
| XM_006722819.1:c.4011C>T | XP_006722882.1:p.Asp1337= | |
| XM_006722820.1:c.3975C>T | XP_006722883.1:p.Asp1325= | |
| XM_011528157.1:c.3996C>T | XP_011526459.1:p.Asp1332= | |
| XM_011528158.1:c.2916C>T | XP_011526460.1:p.Asp972= | |
| XM_005259600.2:c.5250C>T | XP_005259657.1:p.Asp1750= | |
| XM_005259606.2:c.5175C>T | XP_005259663.1:p.Asp1725= | |
| XM_005259607.2:c.5163C>T | XP_005259664.1:p.Asp1721= | |
| XM_011528157.2:c.3996C>T | XP_011526459.1:p.Asp1332= | |
| XM_011528158.2:c.2916C>T | XP_011526460.1:p.Asp972= | |
| XM_017027065.1:c.5262C>T | XP_016882554.1:p.Asp1754= | |
| XM_017027066.1:c.5262C>T | XP_016882555.1:p.Asp1754= | |
| XM_017027067.1:c.5262C>T | XP_016882556.1:p.Asp1754= | |
| XM_017027068.1:c.5250C>T | XP_016882557.1:p.Asp1750= | |
| XM_017027069.1:c.5235C>T | XP_016882558.1:p.Asp1745= | |
| XM_017027070.1:c.5214C>T | XP_016882559.1:p.Asp1738= | |
| XM_017027071.1:c.5202C>T | XP_016882560.1:p.Asp1734= | |
| XM_017027072.1:c.5175C>T | XP_016882561.1:p.Asp1725= | |
| XM_017027073.1:c.4536C>T | XP_016882562.1:p.Asp1512= | |
| XM_017027074.1:c.4008C>T | XP_016882563.1:p.Asp1336= | |
| XM_017027075.1:c.3996C>T | XP_016882564.1:p.Asp1332= | |
| XM_017027076.1:c.3960C>T | XP_016882565.1:p.Asp1320= | |
| NM_002850.4:c.5289C>T MANE Select | NP_002841.3:p.Asp1763= | |
| NM_130853.3:c.3948C>T | NP_570923.2:p.Asp1316= | |
| NM_130854.3:c.5175C>T | NP_570924.2:p.Asp1725= | |
| NM_130855.3:c.3960C>T | NP_570925.2:p.Asp1320= | |
| NM_001394011.1:c.5223C>T | NP_001380940.1:p.Asp1741= | |
| NM_001394012.1:c.5202C>T | NP_001380941.1:p.Asp1734= | |
| NM_001394013.1:c.5163C>T | NP_001380942.1:p.Asp1721= |