Linked Data
ClinVar Variation Id:
1420721
ClinVar RCV Id:
RCV001943614
dbSNP Id:
rs923917352
gnomAD v2:
6-24503636-T-C
gnomAD v3:
6-24503408-T-C
gnomAD v4:
6-24503408-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24503408T>C , CM000668.2:g.24503408T>C | GRCh38 |
| NC_000006.11:g.24503636T>C , CM000668.1:g.24503636T>C | GRCh37 |
| NC_000006.10:g.24611615T>C | NCBI36 |
| NG_008161.1:g.13440T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.584T>C MANE Select | ENSP00000350191.3:p.Ile195Thr | |
| ENST00000672352.1:c.347T>C | ENSP00000500876.1:p.Ile116Thr | |
| ENST00000672557.1:c.502T>C | ||
| ENST00000672652.1:c.505T>C | ||
| ENST00000675422.1:n.1344T>C | ||
| ENST00000348925.2:c.584T>C | ENSP00000314649.3:p.Ile195Thr | |
| ENST00000357578.7:c.584T>C | ENSP00000350191.3:p.Ile195Thr | |
| ENST00000491546.5:c.500T>C | ENSP00000417687.1:p.Ile167Thr | |
| NM_001080.3:c.584T>C MANE Select | NP_001071.1:p.Ile195Thr | |
| NM_170740.1:c.584T>C | NP_733936.1:p.Ile195Thr | |
| NM_001368954.1:c.584T>C | NP_001355883.1:p.Ile195Thr |