Linked Data
ClinVar Variation Id:
433334
dbSNP Id:
rs63750494
gnomAD v2:
16-16248869-G-A
gnomAD v4:
16-16155012-G-A
PubMed:
PMID:11536079
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16155012G>A , CM000678.2:g.16155012G>A | GRCh38 |
| NC_000016.9:g.16248869G>A , CM000678.1:g.16248869G>A | GRCh37 |
| NC_000016.8:g.16156370G>A | NCBI36 |
| NG_007558.2:g.73460C>T | |
| NG_007558.3:g.73606C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576204.6:n.765C>T | ||
| ENST00000622290.5:c.*74C>T | ENSP00000483331.2:n.*74C>T | |
| ENST00000205557.12:c.3902C>T MANE Select | ENSP00000205557.7:p.Thr1301Ile | |
| ENST00000640696.1:c.716C>T | ENSP00000492197.1:p.Thr239Ile | |
| ENST00000205557.11:c.3902C>T | ENSP00000205557.7:p.Thr1301Ile | |
| ENST00000456970.6:c.3527C>T | ENSP00000405002.2:n.3527C>T | |
| ENST00000576204.5:n.765C>T | ||
| ENST00000622290.4:c.*1111C>T | ENSP00000483331.1:n.*1111C>T | |
| NM_001171.5:c.3902C>T | NP_001162.4:p.Thr1301Ile | |
| XM_011522479.1:c.3869C>T | XP_011520781.1:p.Thr1290Ile | |
| XM_011522480.1:c.3560C>T | XP_011520782.1:p.Thr1187Ile | |
| XM_011522481.1:c.3560C>T | XP_011520783.1:p.Thr1187Ile | |
| XR_932836.1:n.4200C>T | ||
| XR_932837.1:n.3938C>T | ||
| XR_932838.1:n.4001C>T | ||
| XR_933134.1:n.539-4769G>A | ||
| NM_001351800.1:c.3560C>T | NP_001338729.1:p.Thr1187Ile | |
| NR_147784.1:n.3564C>T | ||
| XM_011522479.2:c.3869C>T | XP_011520781.1:p.Thr1290Ile | |
| XM_011522481.3:c.3560C>T | XP_011520783.1:p.Thr1187Ile | |
| XM_017023212.1:c.3734C>T | XP_016878701.1:p.Thr1245Ile | |
| XM_024450261.1:c.3938C>T | XP_024306029.1:p.Thr1313Ile | |
| XR_932836.2:n.4146C>T | ||
| XR_932837.3:n.3883C>T | ||
| XR_932838.3:n.3946C>T | ||
| NM_001171.6:c.3902C>T MANE Select | NP_001162.5:p.Thr1301Ile |