Linked Data
ClinVar Variation Id:
350227
dbSNP Id:
rs370582480
ExAC:
4:996086 G / A
gnomAD v2:
4-996086-G-A
gnomAD v3:
4-1002298-G-A
gnomAD v4:
4-1002298-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1002298G>A , CM000666.2:g.1002298G>A | GRCh38 |
| NC_000004.11:g.996086G>A , CM000666.1:g.996086G>A | GRCh37 |
| NC_000004.10:g.986086G>A | NCBI36 |
| NG_008103.1:g.20302G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.1002G>A | ENSP00000247933.4:p.Leu334= | |
| ENST00000514224.2:c.1002G>A MANE Select | ENSP00000425081.2:p.Leu334= | |
| ENST00000652070.1:n.1058G>A | ||
| ENST00000247933.8:c.1002G>A | ENSP00000247933.4:p.Leu334= | |
| ENST00000514224.1:c.606G>A | ENSP00000425081.1:p.Leu202= | |
| ENST00000514698.5:n.1109G>A | ||
| NM_000203.4:c.1002G>A | NP_000194.2:p.Leu334= | |
| NR_110313.1:n.1090G>A | ||
| XM_006713882.2:c.606G>A | XP_006713945.1:p.Leu202= | |
| XM_011513459.1:c.1068G>A | XP_011511761.1:p.Leu356= | |
| XM_011513460.1:c.861G>A | XP_011511762.1:p.Leu287= | |
| XM_011513461.1:c.795G>A | XP_011511763.1:p.Leu265= | |
| XM_011513462.1:c.714G>A | XP_011511764.1:p.Leu238= | |
| XM_011513463.1:c.714G>A | XP_011511765.1:p.Leu238= | |
| XR_924947.1:n.1071G>A | ||
| NM_000203.5:c.1002G>A MANE Select | NP_000194.2:p.Leu334= | |
| NM_001363576.1:c.606G>A | NP_001350505.1:p.Leu202= | |
| XM_011513461.2:c.795G>A | XP_011511763.1:p.Leu265= | |
| XM_017008163.1:c.42G>A | XP_016863652.1:p.Leu14= |