Linked Data
dbSNP Id:
rs779554420
ExAC:
15:43896575 A / G
gnomAD v2:
15-43896575-A-G
gnomAD v3:
15-43604377-A-G
gnomAD v4:
15-43604377-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43604377A>G , CM000677.2:g.43604377A>G | GRCh38 |
| NC_000015.9:g.43896575A>G , CM000677.1:g.43896575A>G | GRCh37 |
| NC_000015.8:g.41683867A>G | NCBI36 |
| NG_011636.1:g.19424T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450892.7:c.4202T>C (STRC) MANE Select | ENSP00000401513.2:p.Ile1401Thr | |
| ENST00000411560.1:n.143-407A>G (CKMT1B) | ||
| ENST00000428650.5:c.*1405T>C (STRC) | ENSP00000415991.1:n.*1405T>C | |
| ENST00000440125.5:c.*1994T>C (STRC) | ENSP00000394866.1:n.*1994T>C | |
| ENST00000448437.6:n.1666-2826T>C (STRC) | ||
| ENST00000450892.6:c.4202T>C (STRC) | ENSP00000401513.2:p.Ile1401Thr | |
| ENST00000471703.5:n.2156T>C (STRC) | ||
| ENST00000485556.5:n.3057T>C (STRC) | ||
| ENST00000541030.5:c.1883T>C (STRC) | ENSP00000440413.1:p.Ile628Thr | |
| NM_153700.2:c.4202T>C (STRC) MANE Select | NP_714544.1:p.Ile1401Thr | |
| XM_011521277.1:c.4691T>C (STRC) | XP_011519579.1:p.Ile1564Thr | |
| XM_011521278.1:c.4307T>C (STRC) | XP_011519580.1:p.Ile1436Thr | |
| XM_011521279.1:c.4307T>C (STRC) | XP_011519581.1:p.Ile1436Thr |