Linked Data
ClinVar Variation Id:
366036
dbSNP Id:
rs886063743
gnomAD v2:
9-140729402-A-G
gnomAD v3:
9-137834950-A-G
gnomAD v4:
9-137834950-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137834950A>G , CM000671.2:g.137834950A>G | GRCh38 |
| NC_000009.11:g.140729402A>G , CM000671.1:g.140729402A>G | GRCh37 |
| NC_000009.10:g.139849223A>G | NCBI36 |
| NG_011776.1:g.220959A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.3894A>G MANE Select | ENSP00000417980.1:p.Leu1298= | |
| ENST00000637161.1:c.3801A>G | ENSP00000490328.1:p.Leu1267= | |
| ENST00000637748.1:n.875A>G | ||
| ENST00000460843.5:c.3894A>G | ENSP00000417980.1:p.Leu1298= | |
| ENST00000462942.3:c.2398-11610A>G | ENSP00000436107.1:n.2398-11610A>G | |
| ENST00000472849.1:n.666A>G | ||
| ENST00000475564.5:n.1618A>G | ||
| ENST00000475704.2:n.624A>G | ||
| ENST00000494249.5:n.1247A>G | ||
| NM_024757.4:c.3894A>G | NP_079033.4:p.Leu1298= | |
| XM_005266105.3:c.3885A>G | XP_005266162.1:p.Leu1295= | |
| XM_005266110.1:c.3801A>G | XP_005266167.1:p.Leu1267= | |
| XM_006717288.2:c.3876A>G | XP_006717351.1:p.Leu1292= | |
| XM_011519021.1:c.3903A>G | XP_011517323.1:p.Leu1301= | |
| XM_011519022.1:c.3900A>G | XP_011517324.1:p.Leu1300= | |
| XM_011519023.1:c.3882A>G | XP_011517325.1:p.Leu1294= | |
| XM_011519024.1:c.3825A>G | XP_011517326.1:p.Leu1275= | |
| XM_011519025.1:c.3801A>G | XP_011517327.1:p.Leu1267= | |
| XM_011519026.1:c.3759A>G | XP_011517328.1:p.Leu1253= | |
| XM_011519029.1:c.2325A>G | XP_011517331.1:p.Leu775= | |
| XM_011519030.1:c.1677A>G | XP_011517332.1:p.Leu559= | |
| XM_011519031.1:c.1464A>G | XP_011517333.1:p.Leu488= | |
| XM_011519032.1:c.1464A>G | XP_011517334.1:p.Leu488= | |
| XM_011519033.1:c.3738A>G | XP_011517335.1:p.Leu1246= | |
| NM_001354263.1:c.3873A>G | NP_001341192.1:p.Leu1291= | |
| XM_005266105.5:c.3885A>G | XP_005266162.1:p.Leu1295= | |
| XM_011519021.3:c.3903A>G | XP_011517323.1:p.Leu1301= | |
| XM_011519022.3:c.3900A>G | XP_011517324.1:p.Leu1300= | |
| XM_011519023.3:c.3882A>G | XP_011517325.1:p.Leu1294= | |
| XM_011519029.3:c.2325A>G | XP_011517331.1:p.Leu775= | |
| XM_011519030.3:c.1677A>G | XP_011517332.1:p.Leu559= | |
| XM_017015134.1:c.3879A>G | XP_016870623.1:p.Leu1293= | |
| XM_017015136.2:c.3795A>G | XP_016870625.1:p.Leu1265= | |
| XM_017015137.1:c.3780A>G | XP_016870626.1:p.Leu1260= | |
| XM_017015138.1:c.3780A>G | XP_016870627.1:p.Leu1260= | |
| XM_024447674.1:c.3723A>G | XP_024303442.1:p.Leu1241= | |
| XM_024447675.1:c.3657A>G | XP_024303443.1:p.Leu1219= | |
| XM_024447676.1:c.3018A>G | XP_024303444.1:p.Leu1006= | |
| XM_024447677.1:c.3018A>G | XP_024303445.1:p.Leu1006= | |
| XM_024447680.1:c.3636A>G | XP_024303448.1:p.Leu1212= | |
| NM_024757.5:c.3894A>G MANE Select | NP_079033.4:p.Leu1298= | |
| NM_001354263.2:c.3873A>G | NP_001341192.1:p.Leu1291= |