Linked Data
ClinVar Variation Id:
421211
dbSNP Id:
rs1064794981
gnomAD v4:
3-11034534-G-A
COSMIC:
COSM1495338
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.11034534G>A , CM000665.2:g.11034534G>A | GRCh38 |
| NC_000003.11:g.11076220G>A , CM000665.1:g.11076220G>A | GRCh37 |
| NC_000003.10:g.11051220G>A | NCBI36 |
| NG_053003.1:g.46806G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698198.1:c.1603G>A | ENSP00000513602.1:p.Val535Met | |
| ENST00000287766.10:c.1531G>A MANE Select | ENSP00000287766.4:p.Val511Met | |
| ENST00000495636.2:n.1553G>A | ||
| ENST00000642201.1:c.1531G>A | ENSP00000494778.1:p.Val511Met | |
| ENST00000642515.1:c.1531G>A | ENSP00000496348.1:p.Val511Met | |
| ENST00000642639.1:c.1531G>A | ENSP00000494191.1:p.Val511Met | |
| ENST00000642735.1:c.1531G>A | ENSP00000494050.1:p.Val511Met | |
| ENST00000642767.1:c.1531G>A | ENSP00000494346.1:p.Val511Met | |
| ENST00000642820.1:c.1531G>A | ENSP00000495900.1:p.Val511Met | |
| ENST00000643396.1:c.1531G>A | ENSP00000494136.1:p.Val511Met | |
| ENST00000643498.1:c.1531G>A | ENSP00000494997.1:p.Val511Met | |
| ENST00000644314.1:c.1171G>A | ENSP00000493813.1:p.Val391Met | |
| ENST00000644803.1:c.1558G>A | ENSP00000494469.1:p.Val520Met | |
| ENST00000645029.1:c.1531G>A | ENSP00000496171.1:p.Val511Met | |
| ENST00000645054.1:c.1531G>A | ENSP00000495751.1:p.Val511Met | |
| ENST00000645281.1:c.997G>A | ENSP00000493746.1:p.Val333Met | |
| ENST00000645575.1:c.*914G>A | ENSP00000493666.1:n.*914G>A | |
| ENST00000645592.1:c.1531G>A | ENSP00000496619.1:p.Val511Met | |
| ENST00000645776.1:c.997G>A | ENSP00000495375.1:p.Val333Met | |
| ENST00000645974.1:c.1531G>A | ENSP00000496390.1:p.Val511Met | |
| ENST00000645985.1:c.1325G>A | ||
| ENST00000646022.1:c.1531G>A | ENSP00000494134.1:p.Val511Met | |
| ENST00000646060.1:c.1531G>A | ENSP00000496302.1:p.Val511Met | |
| ENST00000646072.1:c.997G>A | ENSP00000494002.1:p.Val333Met | |
| ENST00000646487.1:c.1108G>A | ENSP00000496768.1:p.Val370Met | |
| ENST00000646570.1:c.1531G>A | ENSP00000496064.1:p.Val511Met | |
| ENST00000646702.1:c.1531G>A | ENSP00000496697.1:p.Val511Met | |
| ENST00000646836.1:n.584G>A | ||
| ENST00000646886.1:n.3899G>A | ||
| ENST00000646924.1:c.1531G>A | ENSP00000493591.1:p.Val511Met | |
| ENST00000647194.1:c.1531G>A | ENSP00000496238.1:p.Val511Met | |
| ENST00000647384.1:c.1079-3027G>A | ENSP00000493779.1:n.1079-3027G>A | |
| ENST00000287766.8:c.1531G>A | ENSP00000287766.4:p.Val511Met | |
| ENST00000495636.1:n.507G>A | ||
| NM_003042.3:c.1531G>A | NP_003033.3:p.Val511Met | |
| XM_005265410.3:c.1531G>A | XP_005265467.1:p.Val511Met | |
| XM_005265411.3:c.1531G>A | XP_005265468.1:p.Val511Met | |
| XM_006713306.2:c.1531G>A | XP_006713369.1:p.Val511Met | |
| XM_011534025.1:c.1531G>A | XP_011532327.1:p.Val511Met | |
| XM_011534026.1:c.1531G>A | XP_011532328.1:p.Val511Met | |
| XM_011534027.1:c.1531G>A | XP_011532329.1:p.Val511Met | |
| XM_011534028.1:c.1531G>A | XP_011532330.1:p.Val511Met | |
| NM_001348250.1:c.1531G>A | NP_001335179.1:p.Val511Met | |
| NM_001348251.1:c.1171G>A | NP_001335180.1:p.Val391Met | |
| NM_001348252.1:c.997G>A | NP_001335181.1:p.Val333Met | |
| NM_001348253.1:c.997G>A | NP_001335182.1:p.Val333Met | |
| XM_005265410.5:c.1531G>A | XP_005265467.1:p.Val511Met | |
| XM_005265411.5:c.1531G>A | XP_005265468.1:p.Val511Met | |
| XM_011534025.3:c.1531G>A | XP_011532327.1:p.Val511Met | |
| XM_011534027.3:c.1531G>A | XP_011532329.1:p.Val511Met | |
| XM_017007071.2:c.1531G>A | XP_016862560.1:p.Val511Met | |
| XM_017007072.2:c.1531G>A | XP_016862561.1:p.Val511Met | |
| NM_003042.4:c.1531G>A MANE Select | NP_003033.3:p.Val511Met | |
| NM_001348250.2:c.1531G>A | NP_001335179.1:p.Val511Met | |
| NM_001348251.2:c.1171G>A | NP_001335180.1:p.Val391Met | |
| NM_001348252.2:c.997G>A | NP_001335181.1:p.Val333Met | |
| NM_001348253.2:c.997G>A | NP_001335182.1:p.Val333Met |