Linked Data
ClinVar Variation Id:
181543
dbSNP Id:
rs572955351
gnomAD v2:
2-39222281-G-C
gnomAD v3:
2-38995140-G-C
gnomAD v4:
2-38995140-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38995140G>C , CM000664.2:g.38995140G>C | GRCh38 |
| NC_000002.11:g.39222281G>C , CM000664.1:g.39222281G>C | GRCh37 |
| NC_000002.10:g.39075785G>C | NCBI36 |
| NG_007530.1:g.130324C>G , LRG_754:g.130324C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685279.1:c.2096C>G | ENSP00000509424.1:p.Ser699Trp | |
| ENST00000690876.1:c.*635C>G | ENSP00000508955.1:n.*635C>G | |
| ENST00000691229.1:c.3098C>G | ENSP00000510437.1:p.Ser1033Trp | |
| ENST00000692089.1:c.3218C>G | ENSP00000508626.1:p.Ser1073Trp | |
| ENST00000692227.1:c.1025C>G | ENSP00000509138.1:p.Ser342Trp | |
| ENST00000692620.1:c.*916C>G | ENSP00000509311.1:n.*916C>G | |
| ENST00000402219.8:c.3329C>G MANE Select | ENSP00000384675.2:p.Ser1110Trp | |
| ENST00000395038.6:c.3329C>G | ENSP00000378479.2:p.Ser1110Trp | |
| ENST00000402219.6:c.3329C>G | ENSP00000384675.2:p.Ser1110Trp | |
| ENST00000426016.5:c.3329C>G | ENSP00000387784.1:p.Ser1110Trp | |
| NM_005633.3:c.3329C>G , LRG_754t1:c.3329C>G | NP_005624.2:p.Ser1110Trp | |
| XM_005264515.3:c.3329C>G | XP_005264572.1:p.Ser1110Trp | |
| XM_011533060.1:c.3422C>G | XP_011531362.1:p.Ser1141Trp | |
| XM_011533061.1:c.3422C>G | XP_011531363.1:p.Ser1141Trp | |
| XM_011533062.1:c.3308C>G | XP_011531364.1:p.Ser1103Trp | |
| XM_011533063.1:c.3305C>G | XP_011531365.1:p.Ser1102Trp | |
| XM_011533064.1:c.3158C>G | XP_011531366.1:p.Ser1053Trp | |
| XM_011533065.1:c.3422C>G | XP_011531367.1:p.Ser1141Trp | |
| XM_011533066.1:c.2264C>G | XP_011531368.1:p.Ser755Trp | |
| XM_005264515.4:c.3329C>G | XP_005264572.1:p.Ser1110Trp | |
| XM_011533062.2:c.3308C>G | XP_011531364.1:p.Ser1103Trp | |
| XM_011533064.2:c.3158C>G | XP_011531366.1:p.Ser1053Trp | |
| NM_001382394.1:c.3308C>G | NP_001369323.1:p.Ser1103Trp | |
| NM_001382395.1:c.3329C>G | NP_001369324.1:p.Ser1110Trp | |
| NM_005633.4:c.3329C>G MANE Select | NP_005624.2:p.Ser1110Trp |