Linked Data
dbSNP Id:
rs760882330
ExAC:
21:19653360 T / C
gnomAD v2:
21-19653360-T-C
gnomAD v4:
21-18281043-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.18281043T>C , CM000683.2:g.18281043T>C | GRCh38 |
| NC_000021.8:g.19653360T>C , CM000683.1:g.19653360T>C | GRCh37 |
| NC_000021.7:g.18575231T>C | NCBI36 |
| NG_012207.1:g.127611A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284885.8:c.2665A>G MANE Select | ENSP00000284885.3:p.Thr889Ala | |
| ENST00000284885.7:c.2665A>G | ENSP00000284885.3:p.Thr889Ala | |
| NM_002772.2:c.2665A>G | NP_002763.2:p.Thr889Ala | |
| XM_011529654.1:c.2800A>G | XP_011527956.1:p.Thr934Ala | |
| XM_011529655.1:c.2800A>G | XP_011527957.1:p.Thr934Ala | |
| XM_011529656.1:c.2800A>G | XP_011527958.1:p.Thr934Ala | |
| XM_011529657.1:c.2755A>G | XP_011527959.1:p.Thr919Ala | |
| XM_011529658.1:c.2719A>G | XP_011527960.1:p.Thr907Ala | |
| XM_011529659.1:c.2710A>G | XP_011527961.1:p.Thr904Ala | |
| XM_011529654.2:c.2800A>G | XP_011527956.1:p.Thr934Ala | |
| XM_011529656.2:c.2800A>G | XP_011527958.1:p.Thr934Ala | |
| XM_011529657.2:c.2755A>G | XP_011527959.1:p.Thr919Ala | |
| XM_011529658.2:c.2719A>G | XP_011527960.1:p.Thr907Ala | |
| NM_002772.3:c.2665A>G MANE Select | NP_002763.3:p.Thr889Ala |