Linked Data
ClinVar Variation Id:
3515
ClinVar RCV Id:
RCV000003692
dbSNP Id:
rs121907895
ExAC:
11:64367330 T / G
gnomAD v2:
11-64367330-T-G
gnomAD v3:
11-64599858-T-G
gnomAD v4:
11-64599858-T-G
PubMed:
PMID:15634722
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64599858T>G , CM000673.2:g.64599858T>G | GRCh38 |
| NC_000011.9:g.64367330T>G , CM000673.1:g.64367330T>G | GRCh37 |
| NC_000011.8:g.64123906T>G | NCBI36 |
| NG_008110.1:g.14049T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377574.6:c.1253T>G MANE Select | ENSP00000366797.1:p.Leu418Arg | |
| ENST00000336464.7:c.1151T>G | ENSP00000336836.7:p.Leu384Arg | |
| ENST00000377567.6:c.929T>G | ENSP00000366790.2:p.Leu310Arg | |
| ENST00000377572.5:c.929T>G | ENSP00000366795.1:p.Leu310Arg | |
| ENST00000377574.5:c.1253T>G | ENSP00000366797.1:p.Leu418Arg | |
| ENST00000473690.5:c.590T>G | ENSP00000438437.1:p.Leu197Arg | |
| NM_001276326.1:c.1151T>G | NP_001263255.1:p.Leu384Arg | |
| NM_001276327.1:c.929T>G | NP_001263256.1:p.Leu310Arg | |
| NM_144585.3:c.1253T>G | NP_653186.2:p.Leu418Arg | |
| NM_153378.2:c.590T>G | NP_700357.1:p.Leu197Arg | |
| XM_006718430.2:c.1328T>G | XP_006718493.1:p.Leu443Arg | |
| XM_006718431.2:c.1223T>G | XP_006718494.1:p.Leu408Arg | |
| XM_006718430.4:c.1328T>G | XP_006718493.1:p.Leu443Arg | |
| XM_006718431.4:c.1223T>G | XP_006718494.1:p.Leu408Arg | |
| NM_144585.4:c.1253T>G MANE Select | NP_653186.2:p.Leu418Arg | |
| NM_001276326.2:c.1151T>G | NP_001263255.1:p.Leu384Arg | |
| NM_153378.3:c.590T>G | NP_700357.1:p.Leu197Arg | |
| NM_001276327.2:c.929T>G | NP_001263256.1:p.Leu310Arg |