Linked Data
dbSNP Id:
rs763904943
ExAC:
15:43893731 C / T
gnomAD v2:
15-43893731-C-T
gnomAD v4:
15-43601533-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43601533C>T , CM000677.2:g.43601533C>T | GRCh38 |
| NC_000015.9:g.43893731C>T , CM000677.1:g.43893731C>T | GRCh37 |
| NC_000015.8:g.41681023C>T | NCBI36 |
| NG_011636.1:g.22268G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450892.7:c.4564G>A (STRC) MANE Select | ENSP00000401513.2:p.Gly1522Arg | |
| ENST00000411560.1:n.142+2000C>T (CKMT1B) | ||
| ENST00000428650.5:c.*1597G>A (STRC) | ENSP00000415991.1:n.*1597G>A | |
| ENST00000440125.5:c.*2356G>A (STRC) | ENSP00000394866.1:n.*2356G>A | |
| ENST00000448437.6:n.1684G>A (STRC) | ||
| ENST00000450892.6:c.4564G>A (STRC) | ENSP00000401513.2:p.Gly1522Arg | |
| ENST00000460952.1:n.143G>A (STRC) | ||
| ENST00000471703.5:n.2518G>A (STRC) | ||
| ENST00000485556.5:n.3419G>A (STRC) | ||
| ENST00000493750.1:n.360G>A (STRC) | ||
| ENST00000541030.5:c.2245G>A (STRC) | ENSP00000440413.1:p.Gly749Arg | |
| NM_153700.2:c.4564G>A (STRC) MANE Select | NP_714544.1:p.Gly1522Arg | |
| XM_011521277.1:c.5053G>A (STRC) | XP_011519579.1:p.Gly1685Arg | |
| XM_011521278.1:c.4669G>A (STRC) | XP_011519580.1:p.Gly1557Arg | |
| XM_011521279.1:c.4669G>A (STRC) | XP_011519581.1:p.Gly1557Arg |