Linked Data
ClinVar Variation Id:
2797584
ClinVar RCV Id:
RCV003609586
dbSNP Id:
rs552223359
gnomAD v2:
9-140707557-G-A
gnomAD v3:
9-137813105-G-A
gnomAD v4:
9-137813105-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137813105G>A , CM000671.2:g.137813105G>A | GRCh38 |
| NC_000009.11:g.140707557G>A , CM000671.1:g.140707557G>A | GRCh37 |
| NC_000009.10:g.139827378G>A | NCBI36 |
| NG_011776.1:g.199114G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.2967G>A MANE Select | ENSP00000417980.1:p.Leu989= | |
| ENST00000636027.1:c.2853G>A | ENSP00000489961.1:p.Leu951= | |
| ENST00000637161.1:c.2874G>A | ENSP00000490328.1:p.Leu958= | |
| ENST00000637261.1:c.3007G>A | ENSP00000490815.1:n.3007G>A | |
| ENST00000637891.1:c.861G>A | ENSP00000490907.1:p.Leu287= | |
| ENST00000460843.5:c.2967G>A | ENSP00000417980.1:p.Leu989= | |
| ENST00000462942.3:c.1824G>A | ENSP00000436107.1:p.Leu608= | |
| ENST00000486164.5:c.654G>A | ||
| ENST00000488242.2:n.493G>A | ||
| NM_024757.4:c.2967G>A | NP_079033.4:p.Leu989= | |
| XM_005266105.3:c.2958G>A | XP_005266162.1:p.Leu986= | |
| XM_005266110.1:c.2874G>A | XP_005266167.1:p.Leu958= | |
| XM_006717288.2:c.2949G>A | XP_006717351.1:p.Leu983= | |
| XM_011519021.1:c.2976G>A | XP_011517323.1:p.Leu992= | |
| XM_011519022.1:c.2973G>A | XP_011517324.1:p.Leu991= | |
| XM_011519023.1:c.2955G>A | XP_011517325.1:p.Leu985= | |
| XM_011519024.1:c.2898G>A | XP_011517326.1:p.Leu966= | |
| XM_011519025.1:c.2874G>A | XP_011517327.1:p.Leu958= | |
| XM_011519026.1:c.2832G>A | XP_011517328.1:p.Leu944= | |
| XM_011519029.1:c.1398G>A | XP_011517331.1:p.Leu466= | |
| XM_011519030.1:c.750G>A | XP_011517332.1:p.Leu250= | |
| XM_011519031.1:c.537G>A | XP_011517333.1:p.Leu179= | |
| XM_011519032.1:c.537G>A | XP_011517334.1:p.Leu179= | |
| XM_011519033.1:c.2811G>A | XP_011517335.1:p.Leu937= | |
| NM_001354263.1:c.2946G>A | NP_001341192.1:p.Leu982= | |
| XM_005266105.5:c.2958G>A | XP_005266162.1:p.Leu986= | |
| XM_011519021.3:c.2976G>A | XP_011517323.1:p.Leu992= | |
| XM_011519022.3:c.2973G>A | XP_011517324.1:p.Leu991= | |
| XM_011519023.3:c.2955G>A | XP_011517325.1:p.Leu985= | |
| XM_011519029.3:c.1398G>A | XP_011517331.1:p.Leu466= | |
| XM_011519030.3:c.750G>A | XP_011517332.1:p.Leu250= | |
| XM_017015134.1:c.2952G>A | XP_016870623.1:p.Leu984= | |
| XM_017015136.2:c.2868G>A | XP_016870625.1:p.Leu956= | |
| XM_017015137.1:c.2853G>A | XP_016870626.1:p.Leu951= | |
| XM_017015138.1:c.2853G>A | XP_016870627.1:p.Leu951= | |
| XM_024447674.1:c.2796G>A | XP_024303442.1:p.Leu932= | |
| XM_024447675.1:c.2730G>A | XP_024303443.1:p.Leu910= | |
| XM_024447676.1:c.2091G>A | XP_024303444.1:p.Leu697= | |
| XM_024447677.1:c.2091G>A | XP_024303445.1:p.Leu697= | |
| XM_024447680.1:c.2709G>A | XP_024303448.1:p.Leu903= | |
| NM_024757.5:c.2967G>A MANE Select | NP_079033.4:p.Leu989= | |
| NM_001354263.2:c.2946G>A | NP_001341192.1:p.Leu982= |