Linked Data
ClinVar Variation Id:
505381
dbSNP Id:
rs1336307815
gnomAD v2:
15-43892272-T-C
gnomAD v3:
15-43600074-T-C
gnomAD v4:
15-43600074-T-C
COSMIC:
COSM292667
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43600074T>C , CM000677.2:g.43600074T>C | GRCh38 |
| NC_000015.9:g.43892272T>C , CM000677.1:g.43892272T>C | GRCh37 |
| NC_000015.8:g.41679564T>C | NCBI36 |
| NG_011636.1:g.23727A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450892.7:c.5125A>G (STRC) MANE Select | ENSP00000401513.2:p.Thr1709Ala | |
| ENST00000411560.1:n.142+541T>C (CKMT1B) | ||
| ENST00000428650.5:c.*2158A>G (STRC) | ENSP00000415991.1:n.*2158A>G | |
| ENST00000440125.5:c.*2917A>G (STRC) | ENSP00000394866.1:n.*2917A>G | |
| ENST00000448437.6:n.2245A>G (STRC) | ||
| ENST00000450892.6:c.5125A>G (STRC) | ENSP00000401513.2:p.Thr1709Ala | |
| ENST00000471703.5:n.3079A>G (STRC) | ||
| ENST00000485556.5:n.3980A>G (STRC) | ||
| ENST00000541030.5:c.2806A>G (STRC) | ENSP00000440413.1:p.Thr936Ala | |
| NM_153700.2:c.5125A>G (STRC) MANE Select | NP_714544.1:p.Thr1709Ala | |
| XM_011521277.1:c.5614A>G (STRC) | XP_011519579.1:p.Thr1872Ala | |
| XM_011521278.1:c.5230A>G (STRC) | XP_011519580.1:p.Thr1744Ala | |
| XM_011521279.1:c.5230A>G (STRC) | XP_011519581.1:p.Thr1744Ala |