Linked Data
ClinVar Variation Id:
2588927
ClinVar RCV Id:
RCV004334463
dbSNP Id:
rs756065153
ExAC:
21:19653455 C / T
gnomAD v2:
21-19653455-C-T
gnomAD v3:
21-18281138-C-T
gnomAD v4:
21-18281138-C-T
COSMIC:
COSM4100873
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.18281138C>T , CM000683.2:g.18281138C>T | GRCh38 |
| NC_000021.8:g.19653455C>T , CM000683.1:g.19653455C>T | GRCh37 |
| NC_000021.7:g.18575326C>T | NCBI36 |
| NG_012207.1:g.127516G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284885.8:c.2570G>A MANE Select | ENSP00000284885.3:p.Arg857Gln | |
| ENST00000284885.7:c.2570G>A | ENSP00000284885.3:p.Arg857Gln | |
| NM_002772.2:c.2570G>A | NP_002763.2:p.Arg857Gln | |
| XM_011529654.1:c.2705G>A | XP_011527956.1:p.Arg902Gln | |
| XM_011529655.1:c.2705G>A | XP_011527957.1:p.Arg902Gln | |
| XM_011529656.1:c.2705G>A | XP_011527958.1:p.Arg902Gln | |
| XM_011529657.1:c.2660G>A | XP_011527959.1:p.Arg887Gln | |
| XM_011529658.1:c.2624G>A | XP_011527960.1:p.Arg875Gln | |
| XM_011529659.1:c.2615G>A | XP_011527961.1:p.Arg872Gln | |
| XM_011529654.2:c.2705G>A | XP_011527956.1:p.Arg902Gln | |
| XM_011529656.2:c.2705G>A | XP_011527958.1:p.Arg902Gln | |
| XM_011529657.2:c.2660G>A | XP_011527959.1:p.Arg887Gln | |
| XM_011529658.2:c.2624G>A | XP_011527960.1:p.Arg875Gln | |
| NM_002772.3:c.2570G>A MANE Select | NP_002763.3:p.Arg857Gln |