Linked Data
dbSNP Id:
rs749862323
ExAC:
15:43892689 A / G
gnomAD v2:
15-43892689-A-G
gnomAD v3:
15-43600491-A-G
gnomAD v4:
15-43600491-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43600491A>G , CM000677.2:g.43600491A>G | GRCh38 |
| NC_000015.9:g.43892689A>G , CM000677.1:g.43892689A>G | GRCh37 |
| NC_000015.8:g.41679981A>G | NCBI36 |
| NG_011636.1:g.23310T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450892.7:c.4993+43T>C (STRC) MANE Select | ENSP00000401513.2:n.4993+43T>C | |
| ENST00000411560.1:n.142+958A>G (CKMT1B) | ||
| ENST00000428650.5:c.*2026+43T>C (STRC) | ENSP00000415991.1:n.*2026+43T>C | |
| ENST00000440125.5:c.*2785+43T>C (STRC) | ENSP00000394866.1:n.*2785+43T>C | |
| ENST00000448437.6:n.2113+43T>C (STRC) | ||
| ENST00000450892.6:c.4993+43T>C (STRC) | ENSP00000401513.2:n.4993+43T>C | |
| ENST00000471703.5:n.2947+43T>C (STRC) | ||
| ENST00000485556.5:n.3848+43T>C (STRC) | ||
| ENST00000541030.5:c.2674+43T>C (STRC) | ENSP00000440413.1:n.2674+43T>C | |
| NM_153700.2:c.4993+43T>C (STRC) MANE Select | NP_714544.1:n.4993+43T>C | |
| XM_011521277.1:c.5482+43T>C (STRC) | XP_011519579.1:n.5482+43T>C | |
| XM_011521278.1:c.5098+43T>C (STRC) | XP_011519580.1:n.5098+43T>C | |
| XM_011521279.1:c.5098+43T>C (STRC) | XP_011519581.1:n.5098+43T>C |