Linked Data
ClinVar Variation Id:
387228
dbSNP Id:
rs780244460
ExAC:
20:49565175 A / G
gnomAD v2:
20-49565175-A-G
gnomAD v3:
20-50948638-A-G
gnomAD v4:
20-50948638-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.50948638A>G , CM000682.2:g.50948638A>G | GRCh38 |
| NC_000020.10:g.49565175A>G , CM000682.1:g.49565175A>G | GRCh37 |
| NC_000020.9:g.48998582A>G | NCBI36 |
| NG_008923.1:g.14886T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371584.9:c.286T>C | ENSP00000360640.5:p.Leu96= | |
| ENST00000681979.1:n.180T>C | ||
| ENST00000682713.1:n.835T>C | ||
| ENST00000682754.1:n.284T>C | ||
| ENST00000683010.1:n.1993T>C | ||
| ENST00000683048.1:c.286T>C | ENSP00000506986.1:p.Leu96= | |
| ENST00000683466.1:c.-30T>C | ENSP00000507404.1:n.-30T>C | |
| ENST00000684708.1:n.215T>C | ||
| ENST00000371588.10:c.286T>C MANE Select | ENSP00000360644.5:p.Leu96= | |
| ENST00000371582.8:c.286T>C | ENSP00000360638.4:p.Leu96= | |
| ENST00000371584.8:c.284T>C | ||
| ENST00000371588.9:c.286T>C | ENSP00000360644.5:p.Leu96= | |
| ENST00000413082.1:c.286T>C | ENSP00000394921.1:p.Leu96= | |
| ENST00000466152.5:n.313T>C | ||
| NM_001317034.1:c.286T>C | NP_001303963.1:p.Leu96= | |
| NM_001317035.1:c.286T>C | NP_001303964.1:p.Leu96= | |
| NM_001317036.1:c.286T>C | NP_001303965.1:p.Leu96= | |
| NM_003859.1:c.286T>C | NP_003850.1:p.Leu96= | |
| NM_003859.2:c.286T>C | NP_003850.1:p.Leu96= | |
| NR_133648.1:n.327T>C | ||
| XM_011529093.1:c.286T>C | XP_011527395.1:p.Leu96= | |
| XM_011529094.1:c.286T>C | XP_011527396.1:p.Leu96= | |
| XR_002958550.1:n.324T>C | ||
| XR_002958551.1:n.325T>C | ||
| NM_003859.3:c.286T>C MANE Select | NP_003850.1:p.Leu96= | |
| NR_133648.2:n.295T>C |