Linked Data
dbSNP Id:
rs558025
gnomAD v2:
6-154441965-A-G
gnomAD v3:
6-154120830-A-G
gnomAD v4:
6-154120830-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.154120830A>G , CM000668.2:g.154120830A>G | GRCh38 |
| NC_000006.11:g.154441965A>G , CM000668.1:g.154441965A>G | GRCh37 |
| NC_000006.10:g.154483657A>G | NCBI36 |
| NG_021208.1:g.115330A>G | |
| NG_021208.2:g.115330A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000330432.12:c.*2109A>G MANE Select | ENSP00000328264.7:n.*2109A>G | |
| ENST00000337049.8:c.1164+29358A>G | ENSP00000338381.4:n.1164+29358A>G | |
| ENST00000524150.2:c.*250+29358A>G | ENSP00000430575.1:n.*250+29358A>G | |
| NM_000914.4:c.*2109A>G | NP_000905.3:n.*2109A>G | |
| NM_001008503.2:c.1164+29358A>G | NP_001008503.2:n.1164+29358A>G | |
| NM_001145279.3:c.*2109A>G | NP_001138751.1:n.*2109A>G | |
| NM_001145280.3:c.*2109A>G | NP_001138752.1:n.*2109A>G | |
| NM_001145281.2:c.*2109A>G | NP_001138753.1:n.*2109A>G | |
| NM_001145287.2:c.*2109A>G | NP_001138759.1:n.*2109A>G | |
| NM_001285522.1:c.*2144A>G | NP_001272451.1:n.*2144A>G | |
| NM_001285524.1:c.*2109A>G | NP_001272453.1:n.*2109A>G | |
| NM_001285526.1:c.*2109A>G | NP_001272455.1:n.*2109A>G | |
| NR_104348.1:n.3555A>G | ||
| NR_104350.1:n.3093A>G | ||
| XM_011535849.1:c.*293-191A>G | XP_011534151.1:n.*293-191A>G | |
| XM_011535859.1:c.*2109A>G | XP_011534161.1:n.*2109A>G | |
| XM_011535860.1:c.*2109A>G | XP_011534162.1:n.*2109A>G | |
| XM_011535861.1:c.*2109A>G | XP_011534163.1:n.*2109A>G | |
| XM_017010906.2:c.*2109A>G | XP_016866395.1:n.*2109A>G | |
| NM_000914.5:c.*2109A>G MANE Select | NP_000905.3:n.*2109A>G | |
| NM_001008503.3:c.1164+29358A>G | NP_001008503.2:n.1164+29358A>G | |
| NM_001145279.4:c.*2109A>G | NP_001138751.1:n.*2109A>G | |
| NM_001145280.4:c.*2109A>G | NP_001138752.1:n.*2109A>G | |
| NM_001145281.3:c.*2109A>G | NP_001138753.1:n.*2109A>G | |
| NM_001145287.3:c.*2109A>G | NP_001138759.1:n.*2109A>G | |
| NM_001285526.2:c.*2109A>G | NP_001272455.1:n.*2109A>G |