Linked Data
dbSNP Id:
rs2150291854
gnomAD v4:
5-77331417-A-G
MyVariant Identifiers:
chr5:g.76627242A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.77331417A>G , CM000667.2:g.77331417A>G | GRCh38 |
| NC_000005.9:g.76627242A>G , CM000667.1:g.76627242A>G | GRCh37 |
| NC_000005.8:g.76662998A>G | NCBI36 |
| NG_023364.1:g.125537A>G | |
| NG_023364.2:g.156166A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264917.10:c.666A>G MANE Select | ENSP00000264917.6:p.Glu222= | |
| ENST00000646262.1:c.294A>G | ENSP00000493971.1:p.Glu98= | |
| ENST00000264917.9:c.666A>G | ENSP00000264917.5:p.Glu222= | |
| ENST00000333194.8:c.666A>G | ENSP00000331336.4:p.Glu222= | |
| ENST00000340978.7:c.666A>G | ENSP00000345446.3:p.Glu222= | |
| ENST00000342343.8:c.606A>G | ENSP00000345646.4:p.Glu202= | |
| ENST00000346042.7:c.666A>G | ENSP00000330428.3:p.Glu222= | |
| ENST00000502945.1:c.294A>G | ENSP00000426200.1:p.Glu98= | |
| ENST00000503963.1:c.-49A>G | ENSP00000422861.1:n.-49A>G | |
| ENST00000505926.5:c.294A>G | ENSP00000425720.1:p.Glu98= | |
| NM_001029851.2:c.666A>G | NP_001025022.1:p.Glu222= | |
| NM_001029852.2:c.666A>G | NP_001025023.1:p.Glu222= | |
| NM_001029853.2:c.606A>G | NP_001025024.1:p.Glu202= | |
| NM_001029854.2:c.666A>G | NP_001025025.1:p.Glu222= | |
| NM_003719.3:c.666A>G | NP_003710.1:p.Glu222= | |
| XM_005248621.3:c.663A>G | XP_005248678.1:p.Glu221= | |
| XM_005248623.3:c.363A>G | XP_005248680.1:p.Glu121= | |
| XM_005248624.3:c.360A>G | XP_005248681.1:p.Glu120= | |
| XM_006714725.2:c.729A>G | XP_006714788.1:p.Glu243= | |
| XM_006714726.2:c.726A>G | XP_006714789.1:p.Glu242= | |
| XM_011543699.1:c.729A>G | XP_011542001.1:p.Glu243= | |
| XM_011543700.1:c.729A>G | XP_011542002.1:p.Glu243= | |
| XM_011543701.1:c.426A>G | XP_011542003.1:p.Glu142= | |
| XM_011543702.1:c.333A>G | XP_011542004.1:p.Glu111= | |
| XM_011543703.1:c.351A>G | XP_011542005.1:p.Glu117= | |
| XM_011543704.1:c.-49A>G | XP_011542006.1:n.-49A>G | |
| NM_001349748.1:c.663A>G | NP_001336677.1:p.Glu221= | |
| NM_001349749.1:c.729A>G | NP_001336678.1:p.Glu243= | |
| NM_001349750.1:c.426A>G | NP_001336679.1:p.Glu142= | |
| NM_001349751.1:c.663A>G | NP_001336680.1:p.Glu221= | |
| NM_001349752.1:c.360A>G | NP_001336681.1:p.Glu120= | |
| NM_001349753.1:c.294A>G | NP_001336682.1:p.Glu98= | |
| XM_005248623.4:c.363A>G | XP_005248680.1:p.Glu121= | |
| XM_006714726.3:c.726A>G | XP_006714789.1:p.Glu242= | |
| XM_011543699.3:c.729A>G | XP_011542001.1:p.Glu243= | |
| XM_011543700.3:c.729A>G | XP_011542002.1:p.Glu243= | |
| XM_011543704.2:c.-49A>G | XP_011542006.1:n.-49A>G | |
| XM_017010005.2:c.663A>G | XP_016865494.1:p.Glu221= | |
| XM_017010007.2:c.363A>G | XP_016865496.1:p.Glu121= | |
| XM_017010008.2:c.363A>G | XP_016865497.1:p.Glu121= | |
| XM_024446253.1:c.294A>G | XP_024302021.1:p.Glu98= | |
| XM_024446254.1:c.294A>G | XP_024302022.1:p.Glu98= | |
| NM_001029851.4:c.666A>G | NP_001025022.1:p.Glu222= | |
| NM_001029852.4:c.666A>G | NP_001025023.1:p.Glu222= | |
| NM_001029853.4:c.606A>G | NP_001025024.1:p.Glu202= | |
| NM_001029854.4:c.666A>G | NP_001025025.1:p.Glu222= | |
| NM_001349748.3:c.663A>G | NP_001336677.1:p.Glu221= | |
| NM_001349749.3:c.729A>G | NP_001336678.1:p.Glu243= | |
| NM_001349750.3:c.426A>G | NP_001336679.1:p.Glu142= | |
| NM_001349751.3:c.663A>G | NP_001336680.1:p.Glu221= | |
| NM_001349752.3:c.360A>G | NP_001336681.1:p.Glu120= | |
| NM_001349753.2:c.294A>G | NP_001336682.1:p.Glu98= | |
| NM_001376062.1:c.363A>G | NP_001362991.1:p.Glu121= | |
| NM_001376063.1:c.666A>G | NP_001362992.1:p.Glu222= | |
| NM_001376064.1:c.666A>G | NP_001362993.1:p.Glu222= | |
| NM_001376065.1:c.663A>G | NP_001362994.1:p.Glu221= | |
| NM_001376066.1:c.303A>G | NP_001362995.1:p.Glu101= | |
| NM_001376067.1:c.294A>G | NP_001362996.1:p.Glu98= | |
| NM_001376068.1:c.294A>G | NP_001362997.1:p.Glu98= | |
| NM_001376069.1:c.423A>G | NP_001362998.1:p.Glu141= | |
| NM_001376070.1:c.363A>G | NP_001362999.1:p.Glu121= | |
| NM_001376071.1:c.360A>G | NP_001363000.1:p.Glu120= | |
| NM_001376072.1:c.363A>G | NP_001363001.1:p.Glu121= | |
| NM_001376073.1:c.363A>G | NP_001363002.1:p.Glu121= | |
| NM_001376074.1:c.303A>G | NP_001363003.1:p.Glu101= | |
| NM_001376075.1:c.294A>G | NP_001363004.1:p.Glu98= | |
| NM_003719.5:c.666A>G MANE Select | NP_003710.1:p.Glu222= |