Linked Data
dbSNP Id:
rs10918682
gnomAD v2:
1-167281994-A-G
gnomAD v3:
1-167312757-A-G
gnomAD v4:
1-167312757-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.167312757A>G , CM000663.2:g.167312757A>G | GRCh38 |
| NC_000001.10:g.167281994A>G , CM000663.1:g.167281994A>G | GRCh37 |
| NC_000001.9:g.165548618A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367866.7:c.62-19713A>G MANE Select | ENSP00000356840.2:n.62-19713A>G | |
| ENST00000648671.1:n.326-19713A>G | ||
| ENST00000271411.8:c.162+9183A>G | ENSP00000271411.5:n.162+9183A>G | |
| ENST00000367865.5:n.269-19713A>G | ||
| ENST00000367866.6:c.62-19713A>G | ENSP00000356840.2:n.62-19713A>G | |
| ENST00000429375.6:c.62-19713A>G | ENSP00000401217.2:n.62-19713A>G | |
| ENST00000442313.5:c.163-6257A>G | ENSP00000404571.2:n.163-6257A>G | |
| ENST00000492850.5:n.269-19713A>G | ||
| ENST00000541643.7:c.-9+9183A>G | ENSP00000441285.2:n.-9+9183A>G | |
| ENST00000557909.5:n.172-19713A>G | ||
| ENST00000559038.5:n.388+9183A>G | ||
| ENST00000560232.6:c.162+9183A>G | ENSP00000453094.2:n.162+9183A>G | |
| NM_001198786.1:c.62-19713A>G | NP_001185715.1:n.62-19713A>G | |
| NM_002697.3:c.62-19713A>G | NP_002688.3:n.62-19713A>G | |
| NR_037163.1:n.174+9183A>G | ||
| XM_011509653.1:c.70+9275A>G | XP_011507955.1:n.70+9275A>G | |
| XM_011509655.1:c.70+9275A>G | XP_011507957.1:n.70+9275A>G | |
| NM_001365848.1:c.-303-19713A>G | NP_001352777.1:n.-303-19713A>G | |
| NM_001365849.1:c.-303-19713A>G | NP_001352778.1:n.-303-19713A>G | |
| XM_011509653.2:c.70+9275A>G | XP_011507955.1:n.70+9275A>G | |
| XM_011509654.3:c.-51-6257A>G | XP_011507956.1:n.-51-6257A>G | |
| XM_017001508.2:c.70+9275A>G | XP_016856997.1:n.70+9275A>G | |
| XM_024447727.1:c.-8-19713A>G | XP_024303495.1:n.-8-19713A>G | |
| NM_002697.4:c.62-19713A>G MANE Select | NP_002688.3:n.62-19713A>G | |
| NM_001198786.2:c.62-19713A>G | NP_001185715.1:n.62-19713A>G | |
| NR_037163.2:n.174+9183A>G |