Linked Data
ClinVar Variation Id:
588776
dbSNP Id:
rs146035193
ExAC:
5:6620238 A / G
gnomAD v2:
5-6620238-A-G
gnomAD v3:
5-6620125-A-G
gnomAD v4:
5-6620125-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.6620125A>G , CM000667.2:g.6620125A>G | GRCh38 |
| NC_000005.9:g.6620238A>G , CM000667.1:g.6620238A>G | GRCh37 |
| NC_000005.8:g.6673238A>G | NCBI36 |
| NG_028215.1:g.18236T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264670.11:c.796T>C MANE Select | ENSP00000264670.6:p.Leu266= | |
| ENST00000264670.10:c.796T>C | ENSP00000264670.6:p.Leu266= | |
| ENST00000504374.5:c.*102T>C | ENSP00000421783.1:n.*102T>C | |
| ENST00000505264.1:n.463T>C | ||
| ENST00000505892.5:n.1365T>C | ||
| ENST00000506139.5:c.691T>C | ENSP00000420957.1:p.Leu231= | |
| NM_001193455.1:c.691T>C | NP_001180384.1:p.Leu231= | |
| NM_017755.5:c.796T>C | NP_060225.4:p.Leu266= | |
| NR_037947.1:n.1092T>C | ||
| NM_017755.6:c.796T>C MANE Select | NP_060225.4:p.Leu266= | |
| NM_001193455.2:c.691T>C | NP_001180384.1:p.Leu231= | |
| NR_037947.2:n.776T>C |