Linked Data
ClinVar Variation Id:
306818
dbSNP Id:
rs145244231
ExAC:
12:102182343 C / T
gnomAD v2:
12-102182343-C-T
gnomAD v3:
12-101788565-C-T
gnomAD v4:
12-101788565-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101788565C>T , CM000674.2:g.101788565C>T | GRCh38 |
| NC_000012.11:g.102182343C>T , CM000674.1:g.102182343C>T | GRCh37 |
| NC_000012.10:g.100706474C>T | NCBI36 |
| NG_021243.1:g.47303G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.348G>A MANE Select | ENSP00000299314.7:p.Thr116= | |
| ENST00000299314.11:c.348G>A | ENSP00000299314.7:p.Thr116= | |
| ENST00000549940.5:c.348G>A | ENSP00000449150.1:p.Thr116= | |
| ENST00000550352.1:n.142G>A | ||
| NM_024312.4:c.348G>A | NP_077288.2:p.Thr116= | |
| XM_006719593.2:c.348G>A | XP_006719656.1:p.Thr116= | |
| XM_011538731.1:c.267G>A | XP_011537033.1:p.Thr89= | |
| XM_006719593.3:c.348G>A | XP_006719656.1:p.Thr116= | |
| XM_011538731.2:c.267G>A | XP_011537033.1:p.Thr89= | |
| XM_017019961.1:c.132G>A | XP_016875450.1:p.Thr44= | |
| XM_017019962.2:c.-1003G>A | XP_016875451.1:n.-1003G>A | |
| NM_024312.5:c.348G>A MANE Select | NP_077288.2:p.Thr116= |