Linked Data
ClinVar Variation Id:
297244
ClinVar RCV Id:
RCV000291494
dbSNP Id:
rs1057515448
gnomAD v2:
1-40544253-A-G
gnomAD v4:
1-40078581-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40078581A>G , CM000663.2:g.40078581A>G | GRCh38 |
| NC_000001.10:g.40544253A>G , CM000663.1:g.40544253A>G | GRCh37 |
| NC_000001.9:g.40316840A>G | NCBI36 |
| NG_009192.1:g.23890T>C , LRG_690:g.23890T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.8:c.702T>C | ENSP00000394863.4:p.Ile234= | |
| ENST00000439754.6:c.705T>C | ENSP00000403207.2:p.Ile235= | |
| ENST00000449045.7:c.396T>C | ENSP00000392293.2:p.Ile132= | |
| ENST00000527311.7:c.474T>C | ENSP00000436695.3:p.Ile158= | |
| ENST00000530076.6:c.48T>C | ENSP00000434007.1:p.Ile16= | |
| ENST00000530704.6:c.*328T>C | ENSP00000431655.1:n.*328T>C | |
| ENST00000641083.1:c.683T>C | ||
| ENST00000641236.1:n.942T>C | ||
| ENST00000641319.1:c.705T>C | ENSP00000493128.1:p.Ile235= | |
| ENST00000641381.1:c.149-1668T>C | ||
| ENST00000641471.1:c.792T>C | ENSP00000493146.1:p.Ile264= | |
| ENST00000641691.1:c.*557T>C | ENSP00000492910.1:n.*557T>C | |
| ENST00000641924.1:c.*134T>C | ENSP00000493063.1:n.*134T>C | |
| ENST00000642050.2:c.705T>C MANE Select | ENSP00000493153.1:p.Ile235= | |
| ENST00000372775.2:n.102T>C | ||
| ENST00000372779.8:c.792T>C | ENSP00000361865.4:p.Ile264= | |
| ENST00000433473.7:c.705T>C | ENSP00000394863.3:p.Ile235= | |
| ENST00000439754.5:c.390T>C | ENSP00000403207.1:p.Ile130= | |
| ENST00000449045.6:c.396T>C | ENSP00000392293.2:p.Ile132= | |
| ENST00000527311.6:c.480T>C | ENSP00000436695.2:p.Ile160= | |
| ENST00000529905.5:c.705T>C | ENSP00000432053.1:p.Ile235= | |
| ENST00000530076.5:c.48T>C | ENSP00000434007.1:p.Ile16= | |
| ENST00000530704.5:c.*328T>C | ENSP00000431655.1:n.*328T>C | |
| NM_000310.3:c.705T>C , LRG_690t1:c.705T>C | NP_000301.1:p.Ile235= | |
| NM_001142604.1:c.396T>C | NP_001136076.1:p.Ile132= | |
| XM_005271008.1:c.705T>C | XP_005271065.1:p.Ile235= | |
| NM_001363695.1:c.705T>C | NP_001350624.1:p.Ile235= | |
| NM_000310.4:c.705T>C MANE Select | NP_000301.1:p.Ile235= | |
| NM_001142604.2:c.396T>C | NP_001136076.1:p.Ile132= | |
| NM_001363695.2:c.705T>C | NP_001350624.1:p.Ile235= |