Linked Data
ClinVar Variation Id:
2133594
ClinVar RCV Id:
RCV003041010
dbSNP Id:
rs942625435
gnomAD v4:
1-102946867-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102946867A>G , CM000663.2:g.102946867A>G | GRCh38 |
| NC_000001.10:g.103412423A>G , CM000663.1:g.103412423A>G | GRCh37 |
| NC_000001.9:g.103185011A>G | NCBI36 |
| NG_008033.1:g.166630T>C | |
| NG_008033.2:g.166630T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.3258T>C MANE Select | ENSP00000359114.3:p.Ala1086= | |
| ENST00000353414.8:c.3141T>C | ENSP00000302551.6:p.Ala1047= | |
| ENST00000358392.6:c.3294T>C | ENSP00000351163.2:p.Ala1098= | |
| ENST00000370096.7:c.3258T>C | ENSP00000359114.3:p.Ala1086= | |
| ENST00000512756.5:c.2910T>C | ENSP00000426533.1:p.Ala970= | |
| ENST00000635193.1:c.2592T>C | ||
| NM_001190709.1:c.3141T>C | NP_001177638.1:p.Ala1047= | |
| NM_001854.3:c.3258T>C | NP_001845.3:p.Ala1086= | |
| NM_080629.2:c.3294T>C | NP_542196.2:p.Ala1098= | |
| NM_080630.3:c.2910T>C | NP_542197.3:p.Ala970= | |
| XM_011540719.1:c.3258T>C | XP_011539021.1:p.Ala1086= | |
| XM_011540720.1:c.1491T>C | XP_011539022.1:p.Ala497= | |
| XM_011540721.1:c.846T>C | XP_011539023.1:p.Ala282= | |
| NR_134980.1:n.3592T>C | ||
| XM_017000334.1:c.3411T>C | XP_016855823.1:p.Ala1137= | |
| XM_017000335.1:c.3405T>C | XP_016855824.1:p.Ala1135= | |
| XM_017000336.1:c.3411T>C | XP_016855825.1:p.Ala1137= | |
| XM_017000337.1:c.1809T>C | XP_016855826.1:p.Ala603= | |
| NM_001854.4:c.3258T>C MANE Select | NP_001845.3:p.Ala1086= | |
| NM_080630.4:c.2910T>C | NP_542197.3:p.Ala970= | |
| NR_134980.2:n.3618T>C | ||
| NM_001190709.2:c.3141T>C | NP_001177638.1:p.Ala1047= | |
| NM_080629.3:c.3294T>C | NP_542196.2:p.Ala1098= |