Linked Data
ClinVar Variation Id:
279817
dbSNP Id:
rs377227909
ExAC:
20:62038239 C / A
gnomAD v2:
20-62038239-C-A
gnomAD v3:
20-63406886-C-A
gnomAD v4:
20-63406886-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63406886C>A , CM000682.2:g.63406886C>A | GRCh38 |
| NC_000020.10:g.62038239C>A , CM000682.1:g.62038239C>A | GRCh37 |
| NC_000020.9:g.61508683C>A | NCBI36 |
| NG_009004.1:g.70755G>T | |
| NG_009004.2:g.70755G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.2431G>T | ENSP00000516702.1:p.Val811Leu | |
| ENST00000359125.7:c.2377G>T MANE Select | ENSP00000352035.2:p.Val793Leu | |
| ENST00000637193.1:c.1774G>T | ENSP00000490734.1:p.Val592Leu | |
| ENST00000344462.8:c.2284G>T | ENSP00000339611.4:p.Val762Leu | |
| ENST00000357249.6:c.1945G>T | ENSP00000349789.3:p.Val649Leu | |
| ENST00000359125.6:c.2377G>T | ENSP00000352035.2:p.Val793Leu | |
| ENST00000360480.7:c.2293G>T | ENSP00000353668.3:p.Val765Leu | |
| ENST00000370224.5:c.2241+160G>T | ENSP00000359244.2:n.2241+160G>T | |
| ENST00000625514.2:c.2205+160G>T | ENSP00000486040.1:n.2205+160G>T | |
| ENST00000626839.2:c.2323G>T | ENSP00000486706.1:p.Val775Leu | |
| ENST00000629241.2:c.2133+160G>T | ENSP00000487142.1:n.2133+160G>T | |
| ENST00000629676.2:c.1680-6043G>T | ENSP00000486194.1:n.1680-6043G>T | |
| NM_004518.4:c.2293G>T | NP_004509.2:p.Val765Leu | |
| NM_172106.1:c.2323G>T | NP_742104.1:p.Val775Leu | |
| NM_172107.2:c.2377G>T | NP_742105.1:p.Val793Leu | |
| NM_172108.3:c.2284G>T | NP_742106.1:p.Val762Leu | |
| XM_006723787.1:c.2419G>T | XP_006723850.1:p.Val807Leu | |
| XM_011528807.1:c.2485G>T | XP_011527109.1:p.Val829Leu | |
| XM_011528808.1:c.2482G>T | XP_011527110.1:p.Val828Leu | |
| XM_011528809.1:c.2455G>T | XP_011527111.1:p.Val819Leu | |
| XM_011528810.1:c.2431G>T | XP_011527112.1:p.Val811Leu | |
| XM_011528811.1:c.2401G>T | XP_011527113.1:p.Val801Leu | |
| XM_011528812.1:c.2374G>T | XP_011527114.1:p.Val792Leu | |
| XM_011528813.1:c.2359G>T | XP_011527115.1:p.Val787Leu | |
| XM_011528814.1:c.1966G>T | XP_011527116.1:p.Val656Leu | |
| NM_004518.5:c.2293G>T | NP_004509.2:p.Val765Leu | |
| NM_172106.2:c.2323G>T | NP_742104.1:p.Val775Leu | |
| NM_172107.3:c.2377G>T | NP_742105.1:p.Val793Leu | |
| NM_172108.4:c.2284G>T | NP_742106.1:p.Val762Leu | |
| XM_011528810.2:c.2431G>T | XP_011527112.1:p.Val811Leu | |
| XM_011528811.2:c.2401G>T | XP_011527113.1:p.Val801Leu | |
| XM_017027841.2:c.2428G>T | XP_016883330.1:p.Val810Leu | |
| XM_017027842.2:c.2365G>T | XP_016883331.1:p.Val789Leu | |
| XM_017027843.1:c.2362G>T | XP_016883332.1:p.Val788Leu | |
| XM_017027844.2:c.2320G>T | XP_016883333.1:p.Val774Leu | |
| XM_017027845.1:c.1393G>T | XP_016883334.1:p.Val465Leu | |
| NM_004518.6:c.2293G>T | NP_004509.2:p.Val765Leu | |
| NM_172106.3:c.2323G>T | NP_742104.1:p.Val775Leu | |
| NM_172107.4:c.2377G>T MANE Select | NP_742105.1:p.Val793Leu | |
| NM_172108.5:c.2284G>T | NP_742106.1:p.Val762Leu | |
| NM_001382235.1:c.2431G>T | NP_001369164.1:p.Val811Leu |