Linked Data
dbSNP Id:
rs371238520
gnomAD v2:
10-18654081-A-G
gnomAD v3:
10-18365152-A-G
gnomAD v4:
10-18365152-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.18365152A>G , CM000672.2:g.18365152A>G | GRCh38 |
| NC_000010.10:g.18654081A>G , CM000672.1:g.18654081A>G | GRCh37 |
| NC_000010.9:g.18694087A>G | NCBI36 |
| NG_016195.1:g.229476A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377319.9:c.49-36772A>G | ENSP00000366536.3:n.49-36772A>G | |
| ENST00000645287.2:c.130-36772A>G | ENSP00000496203.1:n.130-36772A>G | |
| ENST00000282343.13:c.130-36772A>G | ENSP00000282343.8:n.130-36772A>G | |
| ENST00000324631.13:c.214-36772A>G MANE Select | ENSP00000320025.8:n.214-36772A>G | |
| ENST00000377319.8:c.49-36772A>G | ENSP00000366536.3:n.49-36772A>G | |
| ENST00000377329.10:c.51+24175A>G MANE Plus Clinical | ENSP00000366546.4:n.51+24175A>G | |
| ENST00000377331.8:c.49-36772A>G | ENSP00000366548.4:n.49-36772A>G | |
| ENST00000643096.2:c.130-36772A>G | ENSP00000494209.2:n.130-36772A>G | |
| ENST00000644004.1:c.130-36772A>G | ENSP00000495509.1:n.130-36772A>G | |
| ENST00000645287.1:c.130-36772A>G | ENSP00000496203.1:n.130-36772A>G | |
| ENST00000282343.12:c.130-36772A>G | ENSP00000282343.8:n.130-36772A>G | |
| ENST00000324631.11:c.214-36772A>G | ENSP00000320025.7:n.214-36772A>G | |
| ENST00000352115.10:c.214-36772A>G | ENSP00000344474.6:n.214-36772A>G | |
| ENST00000377319.7:c.49-36772A>G | ENSP00000366536.3:n.49-36772A>G | |
| ENST00000377328.5:c.214-36772A>G | ENSP00000366545.1:n.214-36772A>G | |
| ENST00000377329.8:c.51+24175A>G | ENSP00000366546.4:n.51+24175A>G | |
| ENST00000377331.6:c.130-36772A>G | ENSP00000366548.2:n.130-36772A>G | |
| ENST00000396576.6:c.49-36772A>G | ENSP00000379821.2:n.49-36772A>G | |
| ENST00000498816.1:n.261+24175A>G | ||
| ENST00000612134.4:c.51+24175A>G | ENSP00000480563.1:n.51+24175A>G | |
| ENST00000612743.1:c.-41+24175A>G | ENSP00000478676.1:n.-41+24175A>G | |
| ENST00000615785.4:c.49-36772A>G | ENSP00000480260.1:n.49-36772A>G | |
| ENST00000617363.4:c.49-36772A>G | ENSP00000479756.1:n.49-36772A>G | |
| NM_000724.3:c.49-36772A>G | NP_000715.2:n.49-36772A>G | |
| NM_001167945.1:c.130-36772A>G | NP_001161417.1:n.130-36772A>G | |
| NM_201571.3:c.130-36772A>G | NP_963865.2:n.130-36772A>G | |
| NM_201572.3:c.130-36772A>G | NP_963866.2:n.130-36772A>G | |
| NM_201590.2:c.51+24175A>G | NP_963884.2:n.51+24175A>G | |
| NM_201593.2:c.214-36772A>G | NP_963887.2:n.214-36772A>G | |
| NM_201596.2:c.214-36772A>G | NP_963890.2:n.214-36772A>G | |
| NM_201597.2:c.214-36772A>G | NP_963891.1:n.214-36772A>G | |
| XM_011519659.1:c.51+24175A>G | XP_011517961.1:n.51+24175A>G | |
| XM_011519660.1:c.49-36772A>G | XP_011517962.1:n.49-36772A>G | |
| NM_001330060.1:c.49-36772A>G | NP_001316989.1:n.49-36772A>G | |
| XM_011519659.2:c.51+24175A>G | XP_011517961.1:n.51+24175A>G | |
| XR_001747198.1:n.391-36772A>G | ||
| NM_000724.4:c.49-36772A>G | NP_000715.2:n.49-36772A>G | |
| NM_001167945.2:c.130-36772A>G | NP_001161417.1:n.130-36772A>G | |
| NM_001330060.2:c.49-36772A>G | NP_001316989.1:n.49-36772A>G | |
| NM_201571.4:c.130-36772A>G | NP_963865.2:n.130-36772A>G | |
| NM_201572.4:c.130-36772A>G | NP_963866.2:n.130-36772A>G | |
| NM_201590.3:c.51+24175A>G MANE Plus Clinical | NP_963884.2:n.51+24175A>G | |
| NM_201593.3:c.214-36772A>G | NP_963887.2:n.214-36772A>G | |
| NM_201596.3:c.214-36772A>G MANE Select | NP_963890.2:n.214-36772A>G | |
| NM_201597.3:c.214-36772A>G | NP_963891.1:n.214-36772A>G |