Linked Data
dbSNP Id:
rs1033909721
gnomAD v2:
6-154360573-A-G
gnomAD v3:
6-154039438-A-G
gnomAD v4:
6-154039438-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.154039438A>G , CM000668.2:g.154039438A>G | GRCh38 |
| NC_000006.11:g.154360573A>G , CM000668.1:g.154360573A>G | GRCh37 |
| NC_000006.10:g.154402266A>G | NCBI36 |
| NG_021208.1:g.33938A>G | |
| NG_021208.2:g.33938A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330432.12:c.-107A>G MANE Select | ENSP00000328264.7:n.-107A>G | |
| ENST00000330432.11:c.-107A>G | ENSP00000328264.7:n.-107A>G | |
| ENST00000360422.8:c.80A>G | ENSP00000353598.5:p.Gln27Arg | |
| ENST00000428397.6:c.-107A>G | ENSP00000411903.2:n.-107A>G | |
| ENST00000434900.6:c.173A>G | ENSP00000394624.2:p.Gln58Arg | |
| ENST00000518759.5:c.47+28879A>G | ENSP00000430260.1:n.47+28879A>G | |
| ENST00000520282.5:c.38A>G | ENSP00000430247.1:p.Gln13Arg | |
| ENST00000520708.5:c.-11+28420A>G | ENSP00000430876.1:n.-11+28420A>G | |
| ENST00000523520.1:n.75A>G | ||
| NM_000914.4:c.-107A>G | NP_000905.3:n.-107A>G | |
| NM_001008503.2:c.-107A>G | NP_001008503.2:n.-107A>G | |
| NM_001008504.3:c.-107A>G | NP_001008504.2:n.-107A>G | |
| NM_001008505.2:c.-107A>G | NP_001008505.2:n.-107A>G | |
| NM_001145279.3:c.173A>G | NP_001138751.1:p.Gln58Arg | |
| NM_001145280.3:c.-11+28420A>G | NP_001138752.1:n.-11+28420A>G | |
| NM_001145281.2:c.47+28879A>G | NP_001138753.1:n.47+28879A>G | |
| NM_001145282.2:c.-107A>G | NP_001138754.1:n.-107A>G | |
| NM_001145283.2:c.-107A>G | NP_001138755.1:n.-107A>G | |
| NM_001145284.3:c.-107A>G | NP_001138756.1:n.-107A>G | |
| NM_001145285.2:c.-107A>G | NP_001138757.1:n.-107A>G | |
| NM_001145286.2:c.-107A>G | NP_001138758.1:n.-107A>G | |
| NM_001285522.1:c.-107A>G | NP_001272451.1:n.-107A>G | |
| NM_001285523.1:c.-107A>G | NP_001272452.1:n.-107A>G | |
| NM_001285524.1:c.173A>G | NP_001272453.1:p.Gln58Arg | |
| NR_104348.1:n.28A>G | ||
| NR_104349.1:n.28A>G | ||
| NR_104350.1:n.28A>G | ||
| NR_104351.1:n.28A>G | ||
| XM_006715497.2:c.80A>G | XP_006715560.1:p.Gln27Arg | |
| XM_011535849.1:c.173A>G | XP_011534151.1:p.Gln58Arg | |
| NM_001285523.2:c.-107A>G | NP_001272452.1:n.-107A>G | |
| XM_017010907.2:c.80A>G | XP_016866396.1:p.Gln27Arg | |
| NM_000914.5:c.-107A>G MANE Select | NP_000905.3:n.-107A>G | |
| NM_001008503.3:c.-107A>G | NP_001008503.2:n.-107A>G | |
| NM_001008504.4:c.-107A>G | NP_001008504.2:n.-107A>G | |
| NM_001145279.4:c.173A>G | NP_001138751.1:p.Gln58Arg | |
| NM_001145280.4:c.-11+28420A>G | NP_001138752.1:n.-11+28420A>G | |
| NM_001145281.3:c.47+28879A>G | NP_001138753.1:n.47+28879A>G | |
| NM_001145285.3:c.-107A>G | NP_001138757.1:n.-107A>G | |
| NM_001145286.3:c.-107A>G | NP_001138758.1:n.-107A>G | |
| NM_001285523.3:c.-107A>G | NP_001272452.1:n.-107A>G |