Linked Data
dbSNP Id:
rs770544779
ExAC:
15:43896573 A / G
gnomAD v2:
15-43896573-A-G
gnomAD v3:
15-43604375-A-G
gnomAD v4:
15-43604375-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43604375A>G , CM000677.2:g.43604375A>G | GRCh38 |
| NC_000015.9:g.43896573A>G , CM000677.1:g.43896573A>G | GRCh37 |
| NC_000015.8:g.41683865A>G | NCBI36 |
| NG_011636.1:g.19426T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450892.7:c.4204T>C (STRC) MANE Select | ENSP00000401513.2:p.Ser1402Pro | |
| ENST00000411560.1:n.143-409A>G (CKMT1B) | ||
| ENST00000428650.5:c.*1407T>C (STRC) | ENSP00000415991.1:n.*1407T>C | |
| ENST00000440125.5:c.*1996T>C (STRC) | ENSP00000394866.1:n.*1996T>C | |
| ENST00000448437.6:n.1666-2824T>C (STRC) | ||
| ENST00000450892.6:c.4204T>C (STRC) | ENSP00000401513.2:p.Ser1402Pro | |
| ENST00000471703.5:n.2158T>C (STRC) | ||
| ENST00000485556.5:n.3059T>C (STRC) | ||
| ENST00000541030.5:c.1885T>C (STRC) | ENSP00000440413.1:p.Ser629Pro | |
| NM_153700.2:c.4204T>C (STRC) MANE Select | NP_714544.1:p.Ser1402Pro | |
| XM_011521277.1:c.4693T>C (STRC) | XP_011519579.1:p.Ser1565Pro | |
| XM_011521278.1:c.4309T>C (STRC) | XP_011519580.1:p.Ser1437Pro | |
| XM_011521279.1:c.4309T>C (STRC) | XP_011519581.1:p.Ser1437Pro |