Linked Data
ClinVar Variation Id:
11889
dbSNP Id:
rs199422117
ExAC:
7:139715531 G / A
gnomAD v2:
7-139715531-G-A
gnomAD v3:
7-140015731-G-A
gnomAD v4:
7-140015731-G-A
PubMed:
PMID:18264100
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140015731G>A , CM000669.2:g.140015731G>A | GRCh38 |
| NC_000007.13:g.139715531G>A , CM000669.1:g.139715531G>A | GRCh37 |
| NC_000007.12:g.139362000G>A | NCBI36 |
| NG_008422.2:g.242350G>A , LRG_579:g.242350G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336425.10:c.1235G>A | ENSP00000338087.7:p.Arg412Gln | |
| ENST00000411653.6:c.1235G>A | ENSP00000411326.3:p.Arg412Gln | |
| ENST00000422328.6:c.*1024G>A | ENSP00000415892.3:n.*1024G>A | |
| ENST00000448866.7:c.1235G>A MANE Select | ENSP00000402536.3:p.Arg412Gln | |
| ENST00000458722.6:c.1373G>A | ENSP00000411274.3:p.Arg458Gln | |
| ENST00000650822.1:c.1238G>A | ENSP00000498517.1:p.Arg413Gln | |
| ENST00000652056.1:c.1238G>A | ENSP00000498271.1:p.Arg413Gln | |
| ENST00000263552.10:c.1238G>A | ENSP00000263552.6:p.Arg413Gln | |
| ENST00000336425.9:c.1235G>A | ENSP00000338087.5:p.Arg412Gln | |
| ENST00000411653.5:c.1235G>A | ENSP00000411326.1:p.Arg412Gln | |
| ENST00000414508.6:c.1238G>A | ENSP00000392702.2:p.Arg413Gln | |
| ENST00000416849.6:c.1376G>A | ENSP00000389414.2:p.Arg459Gln | |
| ENST00000422328.5:c.*1024G>A | ENSP00000415892.1:n.*1024G>A | |
| ENST00000425687.5:c.1034G>A | ENSP00000388736.1:p.Arg345Gln | |
| ENST00000448866.5:c.1235G>A | ENSP00000402536.1:p.Arg412Gln | |
| ENST00000458722.5:c.1373G>A | ENSP00000411274.1:p.Arg458Gln | |
| ENST00000462275.5:n.1206G>A | ||
| NM_001061.4:c.1238G>A | NP_001052.2:p.Arg413Gln | |
| NM_001130966.2:c.1238G>A , LRG_579t1:c.1238G>A | NP_001124438.1:p.Arg413Gln | |
| NM_001166253.1:c.1376G>A , LRG_579t4:c.1376G>A | NP_001159725.1:p.Arg459Gln | |
| NM_001166254.1:c.1034G>A , LRG_579t3:c.1034G>A | NP_001159726.1:p.Arg345Gln | |
| NM_001314028.1:c.1178G>A | NP_001300957.1:p.Arg393Gln | |
| NM_030984.3:c.1238G>A , LRG_579t2:c.1238G>A | NP_112246.2:p.Arg413Gln | |
| NR_029394.1:c.-4294965794G>A | ||
| XM_011516544.1:c.1238G>A | XP_011514846.1:p.Arg413Gln | |
| NM_001061.5:c.1235G>A | NP_001052.3:p.Arg412Gln | |
| NM_001130966.3:c.1235G>A | NP_001124438.2:p.Arg412Gln | |
| NM_001166253.2:c.1373G>A | NP_001159725.2:p.Arg458Gln | |
| NM_001166254.2:c.1034G>A | NP_001159726.1:p.Arg345Gln | |
| NM_001314028.2:c.1178G>A | NP_001300957.1:p.Arg393Gln | |
| NM_001366537.1:c.1052G>A | NP_001353466.1:p.Arg351Gln | |
| NM_030984.4:c.1235G>A | NP_112246.3:p.Arg412Gln | |
| XM_011516544.3:c.1238G>A | XP_011514846.1:p.Arg413Gln | |
| XM_024446901.1:c.980G>A | XP_024302669.1:p.Arg327Gln | |
| NM_001061.7:c.1235G>A MANE Select | NP_001052.3:p.Arg412Gln | |
| NM_001130966.4:c.1235G>A | NP_001124438.2:p.Arg412Gln | |
| NM_001166253.3:c.1373G>A | NP_001159725.2:p.Arg458Gln | |
| NM_001166254.3:c.1034G>A | NP_001159726.1:p.Arg345Gln | |
| NM_001314028.3:c.1178G>A | NP_001300957.1:p.Arg393Gln | |
| NM_001366537.2:c.1052G>A | NP_001353466.1:p.Arg351Gln | |
| NM_030984.5:c.1235G>A | NP_112246.3:p.Arg412Gln | |
| NM_001130966.5:c.1235G>A | NP_001124438.2:p.Arg412Gln | |
| NM_001166253.4:c.1373G>A | NP_001159725.2:p.Arg458Gln | |
| NM_001166254.4:c.1034G>A | NP_001159726.1:p.Arg345Gln | |
| NM_001314028.4:c.1178G>A | NP_001300957.1:p.Arg393Gln | |
| NM_001366537.3:c.1052G>A | NP_001353466.1:p.Arg351Gln | |
| NM_030984.6:c.1235G>A | NP_112246.3:p.Arg412Gln |