Linked Data
ClinVar Variation Id:
542409
dbSNP Id:
rs150752193
ExAC:
14:50597306 T / C
gnomAD v2:
14-50597306-T-C
gnomAD v3:
14-50130588-T-C
gnomAD v4:
14-50130588-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50130588T>C , CM000676.2:g.50130588T>C | GRCh38 |
| NC_000014.8:g.50597306T>C , CM000676.1:g.50597306T>C | GRCh37 |
| NC_000014.7:g.49667056T>C | NCBI36 |
| NG_051073.1:g.106106A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216373.10:c.3250A>G MANE Select | ENSP00000216373.5:p.Thr1084Ala | |
| ENST00000216373.9:c.3250A>G | ENSP00000216373.5:p.Thr1084Ala | |
| ENST00000543680.5:c.3151A>G | ENSP00000445328.1:p.Thr1051Ala | |
| NM_006939.2:c.3250A>G | NP_008870.2:p.Thr1084Ala | |
| XM_005268021.1:c.3070A>G | XP_005268078.1:p.Thr1024Ala | |
| XM_011537103.1:c.3211A>G | XP_011535405.1:p.Thr1071Ala | |
| NM_006939.3:c.3250A>G | NP_008870.2:p.Thr1084Ala | |
| NM_006939.4:c.3250A>G MANE Select | NP_008870.2:p.Thr1084Ala |