Linked Data
ClinVar Variation Id:
1501145
ClinVar RCV Id:
RCV002017245
dbSNP Id:
rs1365151656
gnomAD v3:
17-8121668-G-A
gnomAD v4:
17-8121668-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8121668G>A , CM000679.2:g.8121668G>A | GRCh38 |
| NC_000017.10:g.8024986G>A , CM000679.1:g.8024986G>A | GRCh37 |
| NC_000017.9:g.7965711G>A | NCBI36 |
| NG_015807.1:g.2249C>T | |
| NG_015816.1:g.7425C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541682.7:c.596C>T MANE Select | ENSP00000446205.2:p.Thr199Ile | |
| ENST00000317814.8:c.581C>T | ENSP00000314774.4:p.Thr194Ile | |
| ENST00000541682.6:c.596C>T | ENSP00000446205.2:p.Thr199Ile | |
| NM_001165967.1:c.596C>T | NP_001159439.1:p.Thr199Ile | |
| NM_032580.3:c.581C>T | NP_115969.2:p.Thr194Ile | |
| XM_011524038.1:c.701C>T | XP_011522340.1:p.Thr234Ile | |
| XM_011524039.1:c.692C>T | XP_011522341.1:p.Thr231Ile | |
| XM_011524040.1:c.692C>T | XP_011522342.1:p.Thr231Ile | |
| XM_011524041.1:c.683C>T | XP_011522343.1:p.Thr228Ile | |
| XM_011524042.1:c.554C>T | XP_011522344.1:p.Thr185Ile | |
| XR_934203.1:n.69+1854G>A | ||
| XM_017025232.1:c.701C>T | XP_016880721.1:p.Thr234Ile | |
| XM_024451007.1:c.701C>T | XP_024306775.1:p.Thr234Ile | |
| NM_001165967.2:c.596C>T MANE Select | NP_001159439.1:p.Thr199Ile | |
| NM_032580.4:c.581C>T | NP_115969.2:p.Thr194Ile |