Linked Data
ClinVar Variation Id:
216768
dbSNP Id:
rs34925776
ExAC:
2:166747029 C / G
gnomAD v2:
2-166747029-C-G
gnomAD v3:
2-165890519-C-G
gnomAD v4:
2-165890519-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165890519C>G , CM000664.2:g.165890519C>G | GRCh38 |
| NC_000002.11:g.166747029C>G , CM000664.1:g.166747029C>G | GRCh37 |
| NC_000002.10:g.166455275C>G | NCBI36 |
| NG_030345.1:g.68320G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243344.8:c.3223G>C MANE Select | ENSP00000243344.7:p.Val1075Leu | |
| ENST00000652557.1:c.3223G>C | ENSP00000498617.1:p.Val1075Leu | |
| ENST00000679356.1:c.3223G>C | ENSP00000506245.1:p.Val1075Leu | |
| ENST00000679676.1:c.3112G>C | ENSP00000505492.1:p.Val1038Leu | |
| ENST00000679799.1:c.3223G>C | ENSP00000505208.1:p.Val1075Leu | |
| ENST00000679840.1:c.3223G>C | ENSP00000505248.1:p.Val1075Leu | |
| ENST00000679931.1:c.*2265G>C | ENSP00000505632.1:n.*2265G>C | |
| ENST00000679967.1:c.3214G>C | ENSP00000506607.1:p.Val1072Leu | |
| ENST00000680327.1:c.*2265G>C | ENSP00000506639.1:n.*2265G>C | |
| ENST00000680657.1:n.3334G>C | ||
| ENST00000680690.1:c.*2475G>C | ENSP00000506121.1:n.*2475G>C | |
| ENST00000680888.1:c.3223G>C | ENSP00000506276.1:p.Val1075Leu | |
| ENST00000680925.1:n.1253G>C | ||
| ENST00000680947.1:c.*2495G>C | ENSP00000506496.1:n.*2495G>C | |
| ENST00000681024.1:c.3223G>C | ENSP00000506449.1:p.Val1075Leu | |
| ENST00000681083.1:c.*2957G>C | ENSP00000506095.1:n.*2957G>C | |
| ENST00000681167.1:n.3097G>C | ||
| ENST00000681483.1:c.*33G>C | ENSP00000505499.1:n.*33G>C | |
| ENST00000681502.1:c.*6483G>C | ENSP00000505644.1:n.*6483G>C | |
| ENST00000681819.1:c.*33G>C | ENSP00000505673.1:n.*33G>C | |
| ENST00000681952.1:c.3223G>C | ENSP00000506400.1:p.Val1075Leu | |
| ENST00000243344.7:c.3223G>C | ENSP00000243344.7:p.Val1075Leu | |
| ENST00000392695.6:c.123G>C | ||
| NM_024753.4:c.3223G>C | NP_079029.3:p.Val1075Leu | |
| XM_011511870.1:c.2656G>C | XP_011510172.1:p.Val886Leu | |
| XM_011511871.1:c.2473G>C | XP_011510173.1:p.Val825Leu | |
| XM_011511871.3:c.2473G>C | XP_011510173.1:p.Val825Leu | |
| XM_011511872.2:c.*425G>C | XP_011510174.1:n.*425G>C | |
| XM_017004967.1:c.3223G>C | XP_016860456.1:p.Val1075Leu | |
| XM_017004968.2:c.2569G>C | XP_016860457.1:p.Val857Leu | |
| XM_017004969.1:c.2224G>C | XP_016860458.1:p.Val742Leu | |
| NM_024753.5:c.3223G>C MANE Select | NP_079029.3:p.Val1075Leu |