Linked Data
ClinVar Variation Id:
1056991
ClinVar RCV Id:
RCV001365899
dbSNP Id:
rs756439203
ExAC:
20:17475249 T / C
gnomAD v2:
20-17475249-T-C
gnomAD v3:
20-17494604-T-C
gnomAD v4:
20-17494604-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.17494604T>C , CM000682.2:g.17494604T>C | GRCh38 |
| NC_000020.10:g.17475249T>C , CM000682.1:g.17475249T>C | GRCh37 |
| NC_000020.9:g.17423249T>C | NCBI36 |
| NG_012423.2:g.79617A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377873.8:c.1468A>G MANE Select | ENSP00000367104.3:p.Thr490Ala | |
| ENST00000536626.7:c.1051A>G | ENSP00000442522.1:p.Thr351Ala | |
| ENST00000377868.6:c.1093A>G | ENSP00000367099.2:p.Thr365Ala | |
| ENST00000377873.7:c.1468A>G | ENSP00000367104.3:p.Thr490Ala | |
| ENST00000536626.5:c.1051A>G | ENSP00000442522.1:p.Thr351Ala | |
| NM_001161705.1:c.1093A>G | NP_001155177.1:p.Thr365Ala | |
| NM_001195.4:c.1468A>G | NP_001186.1:p.Thr490Ala | |
| NM_001278606.1:c.1051A>G | NP_001265535.1:p.Thr351Ala | |
| NM_001278607.1:c.1135A>G | NP_001265536.1:p.Thr379Ala | |
| NM_001278608.1:c.1051A>G | NP_001265537.1:p.Thr351Ala | |
| XM_011529312.1:c.1051A>G | XP_011527614.1:p.Thr351Ala | |
| XM_017028005.2:c.1360A>G | XP_016883494.1:p.Thr454Ala | |
| NM_001195.5:c.1468A>G MANE Select | NP_001186.1:p.Thr490Ala | |
| NM_001161705.2:c.1093A>G | NP_001155177.1:p.Thr365Ala | |
| NM_001278606.2:c.1051A>G | NP_001265535.1:p.Thr351Ala | |
| NM_001278607.2:c.1135A>G | NP_001265536.1:p.Thr379Ala | |
| NM_001278608.2:c.1051A>G | NP_001265537.1:p.Thr351Ala |