Linked Data
ClinVar Variation Id:
2476486
ClinVar RCV Id:
RCV004271197
dbSNP Id:
rs999114321
gnomAD v2:
10-105147408-C-T
gnomAD v4:
10-103387651-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.103387651C>T , CM000672.2:g.103387651C>T | GRCh38 |
| NC_000010.10:g.105147408C>T , CM000672.1:g.105147408C>T | GRCh37 |
| NC_000010.9:g.105137398C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686612.1:n.543C>T | ||
| ENST00000687501.1:n.3534C>T | ||
| ENST00000690052.1:c.*1006C>T | ENSP00000510708.1:n.*1006C>T | |
| ENST00000692195.1:c.1973C>T | ENSP00000510076.1:p.Thr658Ile | |
| ENST00000692471.1:n.598C>T | ||
| ENST00000693184.1:n.368C>T | ||
| ENST00000369839.4:c.2138C>T MANE Select | ENSP00000358854.3:p.Thr713Ile | |
| ENST00000369839.3:c.2138C>T | ENSP00000358854.3:p.Thr713Ile | |
| NM_006951.3:c.2138C>T | NP_008882.2:p.Thr713Ile | |
| XM_011540108.1:c.1973C>T | XP_011538410.1:p.Thr658Ile | |
| NM_006951.4:c.2138C>T | NP_008882.2:p.Thr713Ile | |
| NM_139052.2:c.1973C>T | NP_620640.1:p.Thr658Ile | |
| NM_006951.5:c.2138C>T MANE Select | NP_008882.2:p.Thr713Ile | |
| NM_139052.3:c.1973C>T | NP_620640.1:p.Thr658Ile |