Linked Data
ClinVar Variation Id:
524199
ClinVar RCV Id:
RCV000627674
dbSNP Id:
rs1350194762
gnomAD v2:
11-134038006-T-G
gnomAD v4:
11-134168111-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.134168111T>G , CM000673.2:g.134168111T>G | GRCh38 |
| NC_000011.9:g.134038006T>G , CM000673.1:g.134038006T>G | GRCh37 |
| NC_000011.8:g.133543216T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525432.2:n.3479A>C | ||
| ENST00000525964.7:c.*1100A>C | ENSP00000431612.2:n.*1100A>C | |
| ENST00000527944.2:c.85A>C | ||
| ENST00000530396.2:c.899A>C | ENSP00000435173.2:p.Glu300Ala | |
| ENST00000534532.7:c.*129A>C | ENSP00000434168.2:n.*129A>C | |
| ENST00000685324.1:c.3458A>C | ENSP00000508707.1:p.Glu1153Ala | |
| ENST00000687155.1:n.3518A>C | ||
| ENST00000687480.1:n.4112A>C | ||
| ENST00000688263.1:c.3458A>C | ENSP00000510008.1:p.Glu1153Ala | |
| ENST00000688672.1:c.3458A>C | ENSP00000510391.1:p.Glu1153Ala | |
| ENST00000688834.1:n.483A>C | ||
| ENST00000689205.1:c.*3160A>C | ENSP00000510550.1:n.*3160A>C | |
| ENST00000689387.1:c.2657A>C | ||
| ENST00000690149.1:c.3176A>C | ||
| ENST00000690743.1:c.*3067A>C | ENSP00000508701.1:n.*3067A>C | |
| ENST00000692494.1:n.3500A>C | ||
| ENST00000534548.7:c.3458A>C MANE Select | ENSP00000433681.3:p.Glu1153Ala | |
| ENST00000525964.6:c.*1100A>C | ENSP00000431612.2:n.*1100A>C | |
| ENST00000527944.1:c.173A>C | ENSP00000432532.1:p.Glu58Ala | |
| ENST00000530396.1:c.566A>C | ENSP00000435173.1:p.Glu189Ala | |
| ENST00000534532.6:c.*129A>C | ENSP00000434168.2:n.*129A>C | |
| ENST00000534548.6:c.3458A>C | ENSP00000433681.2:p.Glu1153Ala | |
| NM_015261.2:c.3458A>C | NP_056076.1:p.Glu1153Ala | |
| XM_011542718.1:c.3458A>C | XP_011541020.1:p.Glu1153Ala | |
| XM_011542719.1:c.3044A>C | XP_011541021.1:p.Glu1015Ala | |
| XR_947815.1:n.3781A>C | ||
| XR_947816.1:n.3922A>C | ||
| XM_011542719.2:c.3044A>C | XP_011541021.1:p.Glu1015Ala | |
| XM_024448406.1:c.3458A>C | XP_024304174.1:p.Glu1153Ala | |
| XM_024448407.1:c.3458A>C | XP_024304175.1:p.Glu1153Ala | |
| XR_001747803.2:n.4031A>C | ||
| XR_947815.3:n.3890A>C | ||
| NM_001372065.1:c.3458A>C | NP_001358994.1:p.Glu1153Ala | |
| NM_001372068.1:c.3458A>C | NP_001358997.1:p.Glu1153Ala | |
| NM_001372069.1:c.3044A>C | NP_001358998.1:p.Glu1015Ala | |
| NM_001372070.1:c.3044A>C | NP_001358999.1:p.Glu1015Ala | |
| NM_015261.3:c.3458A>C MANE Select | NP_056076.1:p.Glu1153Ala |