Linked Data
ClinVar Variation Id:
954307
ClinVar RCV Id:
RCV001226746
dbSNP Id:
rs1228940279
gnomAD v3:
5-90745632-C-T
gnomAD v4:
5-90745632-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90745632C>T , CM000667.2:g.90745632C>T | GRCh38 |
| NC_000005.9:g.90041449C>T , CM000667.1:g.90041449C>T | GRCh37 |
| NC_000005.8:g.90077205C>T | NCBI36 |
| NG_007083.1:g.191833C>T | |
| NG_007083.2:g.221289C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.10811C>T MANE Select | ENSP00000384582.2:p.Thr3604Ile | |
| ENST00000639431.1:c.265+69423C>T | ENSP00000491057.1:n.265+69423C>T | |
| ENST00000640374.1:n.3955C>T | ||
| ENST00000640464.1:n.1230C>T | ||
| ENST00000405460.6:c.10811C>T | ENSP00000384582.2:p.Thr3604Ile | |
| ENST00000509621.1:c.3508C>T | ||
| NM_032119.3:c.10811C>T | NP_115495.3:p.Thr3604Ile | |
| NR_003149.1:n.10824C>T | ||
| XM_011543675.1:c.10808C>T | XP_011541977.1:p.Thr3603Ile | |
| XM_011543676.1:c.10730C>T | XP_011541978.1:p.Thr3577Ile | |
| XM_011543677.1:c.8114C>T | XP_011541979.1:p.Thr2705Ile | |
| XM_011543678.1:c.10811C>T | XP_011541980.1:p.Thr3604Ile | |
| XM_011543679.1:c.*33C>T | XP_011541981.1:n.*33C>T | |
| NM_032119.4:c.10811C>T MANE Select | NP_115495.3:p.Thr3604Ile | |
| XM_017009963.2:c.10832C>T | XP_016865452.1:p.Thr3611Ile | |
| XM_017009964.2:c.10829C>T | XP_016865453.1:p.Thr3610Ile | |
| XM_017009965.1:c.10829C>T | XP_016865454.1:p.Thr3610Ile | |
| XM_017009966.2:c.10751C>T | XP_016865455.1:p.Thr3584Ile | |
| XM_017009967.1:c.10736C>T | XP_016865456.1:p.Thr3579Ile | |
| XM_017009968.2:c.10832C>T | XP_016865457.1:p.Thr3611Ile | |
| XM_017009969.2:c.10832C>T | XP_016865458.1:p.Thr3611Ile | |
| XM_017009970.2:c.10832C>T | XP_016865459.1:p.Thr3611Ile | |
| XM_017009971.2:c.10832C>T | XP_016865460.1:p.Thr3611Ile | |
| XM_017009972.1:c.3950C>T | XP_016865461.1:p.Thr1317Ile | |
| XM_017009973.1:c.3929C>T | XP_016865462.1:p.Thr1310Ile | |
| XM_017009974.2:c.*33C>T | XP_016865463.1:n.*33C>T | |
| NR_003149.2:n.10827C>T |