Linked Data
dbSNP Id:
rs2143242915
gnomAD v4:
17-39727390-A-G
MyVariant Identifiers:
chr17:g.37883643A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727390A>G , CM000679.2:g.39727390A>G | GRCh38 |
| NC_000017.10:g.37883643A>G , CM000679.1:g.37883643A>G | GRCh37 |
| NC_000017.9:g.35137169A>G | NCBI36 |
| NG_007503.1:g.44251A>G , LRG_724:g.44251A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3255A>G MANE Select | ENSP00000269571.4:p.Val1085= | |
| ENST00000269571.9:c.3255A>G | ENSP00000269571.4:p.Val1085= | |
| ENST00000406381.6:c.3165A>G | ENSP00000385185.2:p.Val1055= | |
| ENST00000445658.6:c.2427A>G | ENSP00000404047.2:p.Val809= | |
| ENST00000541774.5:c.3210A>G | ENSP00000446466.1:p.Val1070= | |
| ENST00000578373.5:c.*3045A>G | ENSP00000463427.1:n.*3045A>G | |
| ENST00000584450.5:c.3160-299A>G | ENSP00000463714.1:n.3160-299A>G | |
| ENST00000584601.5:c.3165A>G | ENSP00000462438.1:p.Val1055= | |
| NM_001005862.2:c.3165A>G , LRG_724t1:c.3165A>G | NP_001005862.1:p.Val1055= | |
| NM_001289936.1:c.3210A>G , LRG_724t4:c.3210A>G | NP_001276865.1:p.Val1070= | |
| NM_001289937.1:c.3160-299A>G | NP_001276866.1:n.3160-299A>G | |
| NM_004448.3:c.3255A>G , LRG_724t2:c.3255A>G | NP_004439.2:p.Val1085= | |
| NR_110535.1:n.3579A>G | ||
| XM_024450641.1:c.3393A>G | XP_024306409.1:p.Val1131= | |
| XM_024450642.1:c.3348A>G | XP_024306410.1:p.Val1116= | |
| XM_024450643.1:c.3303A>G | XP_024306411.1:p.Val1101= | |
| NM_001005862.3:c.3165A>G | NP_001005862.1:p.Val1055= | |
| NM_001289936.2:c.3210A>G | NP_001276865.1:p.Val1070= | |
| NM_001289937.2:c.3160-299A>G | NP_001276866.1:n.3160-299A>G | |
| NM_001382782.1:c.3165A>G | NP_001369711.1:p.Val1055= | |
| NM_001382783.1:c.3165A>G | NP_001369712.1:p.Val1055= | |
| NM_001382784.1:c.3372A>G | NP_001369713.1:p.Val1124= | |
| NM_001382785.1:c.3357A>G | NP_001369714.1:p.Val1119= | |
| NM_001382786.1:c.3336A>G | NP_001369715.1:p.Val1112= | |
| NM_001382787.1:c.3330A>G | NP_001369716.1:p.Val1110= | |
| NM_001382788.1:c.3285A>G | NP_001369717.1:p.Val1095= | |
| NM_001382789.1:c.3276A>G | NP_001369718.1:p.Val1092= | |
| NM_001382790.1:c.3252A>G | NP_001369719.1:p.Val1084= | |
| NM_001382791.1:c.3246A>G | NP_001369720.1:p.Val1082= | |
| NM_001382792.1:c.3219A>G | NP_001369721.1:p.Val1073= | |
| NM_001382793.1:c.3213A>G | NP_001369722.1:p.Val1071= | |
| NM_001382794.1:c.3213A>G | NP_001369723.1:p.Val1071= | |
| NM_001382795.1:c.3207A>G | NP_001369724.1:p.Val1069= | |
| NM_001382796.1:c.3168A>G | NP_001369725.1:p.Val1056= | |
| NM_001382797.1:c.3156A>G | NP_001369726.1:p.Val1052= | |
| NM_001382798.1:c.3099A>G | NP_001369727.1:p.Val1033= | |
| NM_001382799.1:c.3075A>G | NP_001369728.1:p.Val1025= | |
| NM_001382800.1:c.3069A>G | NP_001369729.1:p.Val1023= | |
| NM_001382801.1:c.3051A>G | NP_001369730.1:p.Val1017= | |
| NM_001382802.1:c.2997A>G | NP_001369731.1:p.Val999= | |
| NM_001382803.1:c.3118-299A>G | NP_001369732.1:n.3118-299A>G | |
| NM_001382804.1:c.2427A>G | NP_001369733.1:p.Val809= | |
| NM_001382805.1:c.2304A>G | NP_001369734.1:p.Val768= | |
| NM_001382806.1:c.2217A>G | NP_001369735.1:p.Val739= | |
| NM_004448.4:c.3255A>G MANE Select | NP_004439.2:p.Val1085= | |
| NR_110535.2:n.3493A>G |