Linked Data
dbSNP Id:
rs755779046
ExAC:
21:19653536 C / G
gnomAD v2:
21-19653536-C-G
gnomAD v4:
21-18281219-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.18281219C>G , CM000683.2:g.18281219C>G | GRCh38 |
| NC_000021.8:g.19653536C>G , CM000683.1:g.19653536C>G | GRCh37 |
| NC_000021.7:g.18575407C>G | NCBI36 |
| NG_012207.1:g.127435G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284885.8:c.2489G>C MANE Select | ENSP00000284885.3:p.Arg830Thr | |
| ENST00000284885.7:c.2489G>C | ENSP00000284885.3:p.Arg830Thr | |
| NM_002772.2:c.2489G>C | NP_002763.2:p.Arg830Thr | |
| XM_011529654.1:c.2624G>C | XP_011527956.1:p.Arg875Thr | |
| XM_011529655.1:c.2624G>C | XP_011527957.1:p.Arg875Thr | |
| XM_011529656.1:c.2624G>C | XP_011527958.1:p.Arg875Thr | |
| XM_011529657.1:c.2579G>C | XP_011527959.1:p.Arg860Thr | |
| XM_011529658.1:c.2543G>C | XP_011527960.1:p.Arg848Thr | |
| XM_011529659.1:c.2534G>C | XP_011527961.1:p.Arg845Thr | |
| XM_011529654.2:c.2624G>C | XP_011527956.1:p.Arg875Thr | |
| XM_011529656.2:c.2624G>C | XP_011527958.1:p.Arg875Thr | |
| XM_011529657.2:c.2579G>C | XP_011527959.1:p.Arg860Thr | |
| XM_011529658.2:c.2543G>C | XP_011527960.1:p.Arg848Thr | |
| NM_002772.3:c.2489G>C MANE Select | NP_002763.3:p.Arg830Thr |