Linked Data
ClinVar Variation Id:
290825
dbSNP Id:
rs199833843
ExAC:
5:90016763 T / C
gnomAD v2:
5-90016763-T-C
gnomAD v3:
5-90720946-T-C
gnomAD v4:
5-90720946-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90720946T>C , CM000667.2:g.90720946T>C | GRCh38 |
| NC_000005.9:g.90016763T>C , CM000667.1:g.90016763T>C | GRCh37 |
| NC_000005.8:g.90052519T>C | NCBI36 |
| NG_007083.1:g.167147T>C | |
| NG_007083.2:g.196603T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.9635T>C MANE Select | ENSP00000384582.2:p.Ile3212Thr | |
| ENST00000639431.1:c.265+44737T>C | ENSP00000491057.1:n.265+44737T>C | |
| ENST00000640374.1:n.2779T>C | ||
| ENST00000640464.1:n.54T>C | ||
| ENST00000640779.1:c.4364T>C | ||
| ENST00000405460.6:c.9635T>C | ENSP00000384582.2:p.Ile3212Thr | |
| ENST00000509621.1:c.2332T>C | ||
| NM_032119.3:c.9635T>C | NP_115495.3:p.Ile3212Thr | |
| NR_003149.1:n.9648T>C | ||
| XM_011543675.1:c.9632T>C | XP_011541977.1:p.Ile3211Thr | |
| XM_011543676.1:c.9554T>C | XP_011541978.1:p.Ile3185Thr | |
| XM_011543677.1:c.6938T>C | XP_011541979.1:p.Ile2313Thr | |
| XM_011543678.1:c.9635T>C | XP_011541980.1:p.Ile3212Thr | |
| XM_011543679.1:c.9635T>C | XP_011541981.1:p.Ile3212Thr | |
| XR_948560.1:n.272-5137A>G | ||
| NM_032119.4:c.9635T>C MANE Select | NP_115495.3:p.Ile3212Thr | |
| XM_017009963.2:c.9656T>C | XP_016865452.1:p.Ile3219Thr | |
| XM_017009964.2:c.9653T>C | XP_016865453.1:p.Ile3218Thr | |
| XM_017009965.1:c.9653T>C | XP_016865454.1:p.Ile3218Thr | |
| XM_017009966.2:c.9575T>C | XP_016865455.1:p.Ile3192Thr | |
| XM_017009967.1:c.9560T>C | XP_016865456.1:p.Ile3187Thr | |
| XM_017009968.2:c.9656T>C | XP_016865457.1:p.Ile3219Thr | |
| XM_017009969.2:c.9656T>C | XP_016865458.1:p.Ile3219Thr | |
| XM_017009970.2:c.9656T>C | XP_016865459.1:p.Ile3219Thr | |
| XM_017009971.2:c.9656T>C | XP_016865460.1:p.Ile3219Thr | |
| XM_017009972.1:c.2774T>C | XP_016865461.1:p.Ile925Thr | |
| XM_017009973.1:c.2753T>C | XP_016865462.1:p.Ile918Thr | |
| XM_017009974.2:c.9656T>C | XP_016865463.1:p.Ile3219Thr | |
| XR_001742802.1:n.2523-5137A>G | ||
| NR_003149.2:n.9651T>C |