Linked Data
ClinVar Variation Id:
208887
ClinVar RCV Id:
RCV000201323
dbSNP Id:
rs863223372
gnomAD v2:
X-100744150-A-T
gnomAD v4:
X-101489163-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101489163A>T , CM000685.2:g.101489163A>T | GRCh38 |
| NC_000023.10:g.100744150A>T , CM000685.1:g.100744150A>T | GRCh37 |
| NC_000023.9:g.100630806A>T | NCBI36 |
| NG_017196.2:g.75885A>T | |
| NG_017196.3:g.75886A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354842.5:c.574A>T | ENSP00000423927.2:p.Thr192Ser | |
| ENST00000423738.5:c.574A>T MANE Select | ENSP00000404304.3:p.Thr192Ser | |
| ENST00000433011.6:c.574A>T | ENSP00000424452.2:p.Thr192Ser | |
| ENST00000452188.6:c.574A>T | ENSP00000425302.2:p.Thr192Ser | |
| ENST00000455331.6:c.574A>T | ENSP00000423440.2:p.Thr192Ser | |
| ENST00000354842.4:c.850A>T | ENSP00000423927.1:p.Thr284Ser | |
| ENST00000423738.4:c.574A>T | ENSP00000404304.3:p.Thr192Ser | |
| ENST00000433011.5:c.886A>T | ENSP00000424452.1:p.Thr296Ser | |
| ENST00000442270.5:c.130+1064A>T | ENSP00000426585.1:n.130+1064A>T | |
| ENST00000445416.5:c.130+1064A>T | ENSP00000422573.1:n.130+1064A>T | |
| ENST00000452188.5:c.886A>T | ENSP00000425302.1:p.Thr296Ser | |
| ENST00000455331.5:c.850A>T | ENSP00000423440.1:p.Thr284Ser | |
| NM_001256155.2:c.574A>T | NP_001243084.2:p.Thr192Ser | |
| NR_028407.2:n.1396A>T | ||
| NR_045861.1:n.1287A>T | ||
| NR_045862.1:n.573+1064A>T | ||
| NR_045863.1:n.567+1064A>T | ||
| NR_045864.1:n.1329A>T | ||
| NR_028407.3:n.1381A>T | ||
| NR_045861.2:n.1085A>T | ||
| NR_045862.2:n.371+1064A>T | ||
| NR_045863.2:n.365+1064A>T | ||
| NR_045864.2:n.1127A>T | ||
| NM_001256155.3:c.574A>T MANE Select | NP_001243084.2:p.Thr192Ser |