Linked Data
ClinVar Variation Id:
261780
dbSNP Id:
rs149454830
ExAC:
2:166744832 A / G
gnomAD v2:
2-166744832-A-G
gnomAD v3:
2-165888322-A-G
gnomAD v4:
2-165888322-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165888322A>G , CM000664.2:g.165888322A>G | GRCh38 |
| NC_000002.11:g.166744832A>G , CM000664.1:g.166744832A>G | GRCh37 |
| NC_000002.10:g.166453078A>G | NCBI36 |
| NG_030345.1:g.70517T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243344.8:c.3416T>C MANE Select | ENSP00000243344.7:p.Val1139Ala | |
| ENST00000652557.1:c.3416T>C | ENSP00000498617.1:p.Val1139Ala | |
| ENST00000679356.1:c.3416T>C | ENSP00000506245.1:p.Val1139Ala | |
| ENST00000679676.1:c.3305T>C | ENSP00000505492.1:p.Val1102Ala | |
| ENST00000679799.1:c.3416T>C | ENSP00000505208.1:p.Val1139Ala | |
| ENST00000679840.1:c.3416T>C | ENSP00000505248.1:p.Val1139Ala | |
| ENST00000679931.1:c.*2458T>C | ENSP00000505632.1:n.*2458T>C | |
| ENST00000679967.1:c.3407T>C | ENSP00000506607.1:p.Val1136Ala | |
| ENST00000680327.1:c.*2458T>C | ENSP00000506639.1:n.*2458T>C | |
| ENST00000680657.1:n.3527T>C | ||
| ENST00000680690.1:c.*2668T>C | ENSP00000506121.1:n.*2668T>C | |
| ENST00000680888.1:c.3416T>C | ENSP00000506276.1:p.Val1139Ala | |
| ENST00000680925.1:n.1446T>C | ||
| ENST00000680947.1:c.*2688T>C | ENSP00000506496.1:n.*2688T>C | |
| ENST00000681024.1:c.3416T>C | ENSP00000506449.1:p.Val1139Ala | |
| ENST00000681083.1:c.*3150T>C | ENSP00000506095.1:n.*3150T>C | |
| ENST00000681167.1:n.3290T>C | ||
| ENST00000681483.1:c.*226T>C | ENSP00000505499.1:n.*226T>C | |
| ENST00000681502.1:c.*6676T>C | ENSP00000505644.1:n.*6676T>C | |
| ENST00000681819.1:c.*226T>C | ENSP00000505673.1:n.*226T>C | |
| ENST00000681952.1:c.3416T>C | ENSP00000506400.1:p.Val1139Ala | |
| ENST00000243344.7:c.3416T>C | ENSP00000243344.7:p.Val1139Ala | |
| ENST00000392695.6:c.316T>C | ||
| NM_024753.4:c.3416T>C | NP_079029.3:p.Val1139Ala | |
| XM_011511870.1:c.2849T>C | XP_011510172.1:p.Val950Ala | |
| XM_011511871.1:c.2666T>C | XP_011510173.1:p.Val889Ala | |
| XM_011511871.3:c.2666T>C | XP_011510173.1:p.Val889Ala | |
| XM_011511872.2:c.*618T>C | XP_011510174.1:n.*618T>C | |
| XM_017004967.1:c.3416T>C | XP_016860456.1:p.Val1139Ala | |
| XM_017004968.2:c.2762T>C | XP_016860457.1:p.Val921Ala | |
| XM_017004969.1:c.2417T>C | XP_016860458.1:p.Val806Ala | |
| NM_024753.5:c.3416T>C MANE Select | NP_079029.3:p.Val1139Ala |