Linked Data
ClinVar Variation Id:
745876
ClinVar RCV Id:
RCV000922451
dbSNP Id:
rs373464227
ExAC:
16:114987 C / T
gnomAD v2:
16-114987-C-T
gnomAD v3:
16-64989-C-T
gnomAD v4:
16-64989-C-T
COSMIC:
COSM966990
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.64989C>T , CM000678.2:g.64989C>T | GRCh38 |
| NC_000016.9:g.114987C>T , CM000678.1:g.114987C>T | GRCh37 |
| NC_000016.8:g.54987C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262316.10:c.27G>A MANE Select | ENSP00000262316.5:p.Thr9= | |
| ENST00000417043.5:c.27G>A | ENSP00000412218.1:p.Thr9= | |
| ENST00000419764.1:c.27G>A | ENSP00000394427.1:p.Thr9= | |
| ENST00000428730.5:c.27G>A | ENSP00000411508.1:p.Thr9= | |
| ENST00000450643.5:c.27G>A | ENSP00000408915.1:p.Thr9= | |
| ENST00000472390.1:n.140G>A | ||
| ENST00000487201.1:n.160G>A | ||
| NM_022450.3:c.27G>A | NP_071895.3:p.Thr9= | |
| XM_005255494.1:c.27G>A | XP_005255551.1:p.Thr9= | |
| XM_005255498.2:c.-918G>A | XP_005255555.1:n.-918G>A | |
| XM_006720921.1:c.27G>A | XP_006720984.1:p.Thr9= | |
| XM_011522598.1:c.27G>A | XP_011520900.1:p.Thr9= | |
| XM_011522599.1:c.27G>A | XP_011520901.1:p.Thr9= | |
| XM_011522600.1:c.27G>A | XP_011520902.1:p.Thr9= | |
| XM_017023556.1:c.27G>A | XP_016879045.1:p.Thr9= | |
| XM_017023557.1:c.27G>A | XP_016879046.1:p.Thr9= | |
| XM_017023558.1:c.27G>A | XP_016879047.1:p.Thr9= | |
| NM_022450.4:c.27G>A | NP_071895.3:p.Thr9= | |
| NM_022450.5:c.27G>A MANE Select | NP_071895.3:p.Thr9= |