Linked Data
ClinVar Variation Id:
504929
ClinVar RCV Id:
RCV000614036
dbSNP Id:
rs1370498166
gnomAD v3:
15-43600623-A-G
gnomAD v4:
15-43600623-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43600623A>G , CM000677.2:g.43600623A>G | GRCh38 |
| NC_000015.9:g.43892821A>G , CM000677.1:g.43892821A>G | GRCh37 |
| NC_000015.8:g.41680113A>G | NCBI36 |
| NG_011636.1:g.23178T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450892.7:c.4904T>C (STRC) MANE Select | ENSP00000401513.2:p.Val1635Ala | |
| ENST00000411560.1:n.142+1090A>G (CKMT1B) | ||
| ENST00000428650.5:c.*1937T>C (STRC) | ENSP00000415991.1:n.*1937T>C | |
| ENST00000440125.5:c.*2696T>C (STRC) | ENSP00000394866.1:n.*2696T>C | |
| ENST00000448437.6:n.2024T>C (STRC) | ||
| ENST00000450892.6:c.4904T>C (STRC) | ENSP00000401513.2:p.Val1635Ala | |
| ENST00000460952.1:n.483T>C (STRC) | ||
| ENST00000471703.5:n.2858T>C (STRC) | ||
| ENST00000485556.5:n.3759T>C (STRC) | ||
| ENST00000541030.5:c.2585T>C (STRC) | ENSP00000440413.1:p.Val862Ala | |
| NM_153700.2:c.4904T>C (STRC) MANE Select | NP_714544.1:p.Val1635Ala | |
| XM_011521277.1:c.5393T>C (STRC) | XP_011519579.1:p.Val1798Ala | |
| XM_011521278.1:c.5009T>C (STRC) | XP_011519580.1:p.Val1670Ala | |
| XM_011521279.1:c.5009T>C (STRC) | XP_011519581.1:p.Val1670Ala |