Linked Data
dbSNP Id:
rs141809944
gnomAD v3:
15-43601404-T-C
gnomAD v4:
15-43601404-T-C
COSMIC:
COSM3401751
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43601404T>C , CM000677.2:g.43601404T>C | GRCh38 |
| NC_000015.9:g.43893602T>C , CM000677.1:g.43893602T>C | GRCh37 |
| NC_000015.8:g.41680894T>C | NCBI36 |
| NG_011636.1:g.22397A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450892.7:c.4693A>G (STRC) MANE Select | ENSP00000401513.2:p.Thr1565Ala | |
| ENST00000411560.1:n.142+1871T>C (CKMT1B) | ||
| ENST00000428650.5:c.*1726A>G (STRC) | ENSP00000415991.1:n.*1726A>G | |
| ENST00000440125.5:c.*2485A>G (STRC) | ENSP00000394866.1:n.*2485A>G | |
| ENST00000448437.6:n.1813A>G (STRC) | ||
| ENST00000450892.6:c.4693A>G (STRC) | ENSP00000401513.2:p.Thr1565Ala | |
| ENST00000460952.1:n.272A>G (STRC) | ||
| ENST00000471703.5:n.2647A>G (STRC) | ||
| ENST00000485556.5:n.3548A>G (STRC) | ||
| ENST00000493750.1:n.489A>G (STRC) | ||
| ENST00000541030.5:c.2374A>G (STRC) | ENSP00000440413.1:p.Thr792Ala | |
| NM_153700.2:c.4693A>G (STRC) MANE Select | NP_714544.1:p.Thr1565Ala | |
| XM_011521277.1:c.5182A>G (STRC) | XP_011519579.1:p.Thr1728Ala | |
| XM_011521278.1:c.4798A>G (STRC) | XP_011519580.1:p.Thr1600Ala | |
| XM_011521279.1:c.4798A>G (STRC) | XP_011519581.1:p.Thr1600Ala |