Linked Data
ClinVar Variation Id:
2102199
ClinVar RCV Id:
RCV003037623
gnomAD v4:
5-148402064-T-G
MyVariant Identifiers:
chr5:g.147781627T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148402064T>G , CM000667.2:g.148402064T>G | GRCh38 |
| NC_000005.9:g.147781627T>G , CM000667.1:g.147781627T>G | GRCh37 |
| NC_000005.8:g.147761820T>G | NCBI36 |
| NG_033871.1:g.23130T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340253.10:c.345T>G MANE Select | ENSP00000342023.6:p.Leu115= | |
| ENST00000296701.10:c.345T>G | ENSP00000296701.6:p.Leu115= | |
| ENST00000340253.9:c.345T>G | ENSP00000342023.5:p.Leu115= | |
| ENST00000394370.7:c.345T>G | ENSP00000377895.3:p.Leu115= | |
| ENST00000502629.1:n.219T>G | ||
| ENST00000503613.5:n.554T>G | ||
| ENST00000508326.5:n.446T>G | ||
| ENST00000509699.6:n.410T>G | ||
| ENST00000511080.5:n.221+7160T>G | ||
| ENST00000513826.1:c.345T>G | ENSP00000426410.1:p.Leu115= | |
| ENST00000521160.5:n.394T>G | ||
| NM_001271723.1:c.345T>G | NP_001258652.1:p.Leu115= | |
| NM_030793.4:c.345T>G | NP_110420.3:p.Leu115= | |
| XM_005268513.1:c.345T>G | XP_005268570.1:p.Leu115= | |
| XM_006714797.1:c.345T>G | XP_006714860.1:p.Leu115= | |
| NM_205836.2:c.345T>G | NP_995308.1:p.Leu115= | |
| XM_006714797.2:c.345T>G | XP_006714860.1:p.Leu115= | |
| XM_011537684.3:c.-1003T>G | XP_011535986.1:n.-1003T>G | |
| XM_017009899.1:c.-913T>G | XP_016865388.1:n.-913T>G | |
| XM_017009900.2:c.-1162T>G | XP_016865389.1:n.-1162T>G | |
| XM_017009901.2:c.-913T>G | XP_016865390.1:n.-913T>G | |
| XM_017009902.2:c.-1003T>G | XP_016865391.1:n.-1003T>G | |
| XM_024446223.1:c.345T>G | XP_024301991.1:p.Leu115= | |
| XR_001742284.1:n.491T>G | ||
| NM_030793.5:c.345T>G | NP_110420.3:p.Leu115= | |
| NM_205836.3:c.345T>G MANE Select | NP_995308.1:p.Leu115= | |
| NM_001271723.2:c.345T>G | NP_001258652.1:p.Leu115= |