Linked Data
dbSNP Id:
rs781764136
ExAC:
15:43892162 C / G
gnomAD v2:
15-43892162-C-G
gnomAD v3:
15-43599964-C-G
gnomAD v4:
15-43599964-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43599964C>G , CM000677.2:g.43599964C>G | GRCh38 |
| NC_000015.9:g.43892162C>G , CM000677.1:g.43892162C>G | GRCh37 |
| NC_000015.8:g.41679454C>G | NCBI36 |
| NG_011636.1:g.23837G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450892.7:c.5235G>C (STRC) MANE Select | ENSP00000401513.2:p.Gln1745His | |
| ENST00000411560.1:n.142+431C>G (CKMT1B) | ||
| ENST00000428650.5:c.*2268G>C (STRC) | ENSP00000415991.1:n.*2268G>C | |
| ENST00000440125.5:c.*3027G>C (STRC) | ENSP00000394866.1:n.*3027G>C | |
| ENST00000448437.6:n.2355G>C (STRC) | ||
| ENST00000450892.6:c.5235G>C (STRC) | ENSP00000401513.2:p.Gln1745His | |
| ENST00000471703.5:n.3189G>C (STRC) | ||
| ENST00000485556.5:n.4090G>C (STRC) | ||
| ENST00000541030.5:c.2916G>C (STRC) | ENSP00000440413.1:p.Gln972His | |
| NM_153700.2:c.5235G>C (STRC) MANE Select | NP_714544.1:p.Gln1745His | |
| XM_011521277.1:c.5724G>C (STRC) | XP_011519579.1:p.Gln1908His | |
| XM_011521278.1:c.5340G>C (STRC) | XP_011519580.1:p.Gln1780His | |
| XM_011521279.1:c.5340G>C (STRC) | XP_011519581.1:p.Gln1780His |