Linked Data
ClinVar Variation Id:
138617
dbSNP Id:
rs138595914
ExAC:
21:47744127 G / T
gnomAD v2:
21-47744127-G-T
gnomAD v3:
21-46324213-G-T
gnomAD v4:
21-46324213-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46324213G>T , CM000683.2:g.46324213G>T | GRCh38 |
| NC_000021.8:g.47744127G>T , CM000683.1:g.47744127G>T | GRCh37 |
| NC_000021.7:g.46568555G>T | NCBI36 |
| NG_008961.1:g.5092G>T | |
| NG_008961.2:g.5092G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000466474.6:c.-16G>T | ENSP00000511987.1:n.-16G>T | |
| ENST00000695525.1:n.71G>T | ||
| ENST00000695526.1:c.-16G>T | ENSP00000511988.1:n.-16G>T | |
| ENST00000695558.1:c.-16G>T | ENSP00000512015.1:n.-16G>T | |
| ENST00000703224.1:c.-16G>T | ENSP00000515242.1:n.-16G>T | |
| ENST00000359568.10:c.-16G>T MANE Select | ENSP00000352572.5:n.-16G>T | |
| ENST00000359568.9:c.-16G>T | ENSP00000352572.5:n.-16G>T | |
| ENST00000490468.5:n.73G>T | ||
| NM_006031.5:c.-16G>T | NP_006022.3:n.-16G>T | |
| XM_005261124.3:c.-16G>T | XP_005261181.1:n.-16G>T | |
| XM_011529593.1:c.-16G>T | XP_011527895.1:n.-16G>T | |
| XM_011529594.1:c.-16G>T | XP_011527896.1:n.-16G>T | |
| XM_005261124.5:c.-16G>T | XP_005261181.1:n.-16G>T | |
| XM_011529594.3:c.-16G>T | XP_011527896.1:n.-16G>T | |
| XM_017028362.2:c.-16G>T | XP_016883851.1:n.-16G>T | |
| XM_024452083.1:c.-2124G>T | XP_024307851.1:n.-2124G>T | |
| NM_006031.6:c.-16G>T MANE Select | NP_006022.3:n.-16G>T |