Linked Data
ClinVar Variation Id:
504678
dbSNP Id:
rs148736697
ExAC:
15:43895553 T / G
gnomAD v2:
15-43895553-T-G
gnomAD v3:
15-43603355-T-G
gnomAD v4:
15-43603355-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43603355T>G , CM000677.2:g.43603355T>G | GRCh38 |
| NC_000015.9:g.43895553T>G , CM000677.1:g.43895553T>G | GRCh37 |
| NC_000015.8:g.41682845T>G | NCBI36 |
| NG_011636.1:g.20446A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450892.7:c.4432A>C (STRC) MANE Select | ENSP00000401513.2:p.Thr1478Pro | |
| ENST00000411560.1:n.143-1429T>G (CKMT1B) | ||
| ENST00000428650.5:c.*1578+641A>C (STRC) | ENSP00000415991.1:n.*1578+641A>C | |
| ENST00000440125.5:c.*2224A>C (STRC) | ENSP00000394866.1:n.*2224A>C | |
| ENST00000448437.6:n.1666-1804A>C (STRC) | ||
| ENST00000450892.6:c.4432A>C (STRC) | ENSP00000401513.2:p.Thr1478Pro | |
| ENST00000471703.5:n.2386A>C (STRC) | ||
| ENST00000485556.5:n.3287A>C (STRC) | ||
| ENST00000493750.1:n.228A>C (STRC) | ||
| ENST00000541030.5:c.2113A>C (STRC) | ENSP00000440413.1:p.Thr705Pro | |
| NM_153700.2:c.4432A>C (STRC) MANE Select | NP_714544.1:p.Thr1478Pro | |
| XM_011521277.1:c.4921A>C (STRC) | XP_011519579.1:p.Thr1641Pro | |
| XM_011521278.1:c.4537A>C (STRC) | XP_011519580.1:p.Thr1513Pro | |
| XM_011521279.1:c.4537A>C (STRC) | XP_011519581.1:p.Thr1513Pro |