Linked Data
ClinVar Variation Id:
1362288
ClinVar RCV Id:
RCV001932213
dbSNP Id:
rs1239915974
gnomAD v2:
18-43432512-G-T
gnomAD v4:
18-45852547-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.45852547G>T , CM000680.2:g.45852547G>T | GRCh38 |
| NC_000018.9:g.43432512G>T , CM000680.1:g.43432512G>T | GRCh37 |
| NC_000018.8:g.41686510G>T | NCBI36 |
| NG_042838.1:g.119793C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586655.2:n.5921C>A | ||
| ENST00000587884.2:c.7786C>A | ENSP00000466990.2:n.7786C>A | |
| ENST00000587973.2:n.3525C>A | ||
| ENST00000590884.6:c.7321C>A | ENSP00000466403.2:n.7321C>A | |
| ENST00000592272.6:c.7553C>A | ENSP00000467464.2:n.7553C>A | |
| ENST00000696481.1:n.4074+5306C>A | ||
| ENST00000696482.1:c.7285C>A | ENSP00000512656.1:n.7285C>A | |
| ENST00000696483.1:c.7557+3026C>A | ENSP00000512657.1:n.7557+3026C>A | |
| ENST00000696484.1:c.7442+5306C>A | ENSP00000512658.1:n.7442+5306C>A | |
| ENST00000696485.1:c.*2252C>A | ENSP00000512659.1:n.*2252C>A | |
| ENST00000696489.1:c.7657C>A | ENSP00000512660.1:p.Leu2553Ile | |
| ENST00000696490.1:c.*96C>A | ENSP00000512661.1:n.*96C>A | |
| ENST00000282041.11:c.7660C>A MANE Select | ENSP00000282041.4:p.Leu2554Ile | |
| ENST00000282041.9:c.7660C>A | ENSP00000282041.4:p.Leu2554Ile | |
| ENST00000590854.5:c.1437C>A | ||
| NM_020964.2:c.7660C>A | NP_066015.2:p.Leu2554Ile | |
| XM_011526123.1:c.7687C>A | XP_011524425.1:p.Leu2563Ile | |
| XM_011526124.1:c.7584+3026C>A | XP_011524426.1:n.7584+3026C>A | |
| NM_020964.3:c.7660C>A MANE Select | NP_066015.2:p.Leu2554Ile | |
| XM_017025890.2:c.7557+3026C>A | XP_016881379.1:n.7557+3026C>A | |
| XR_001753256.1:n.7635C>A | ||
| XR_001753257.1:n.7683C>A |