Linked Data
ClinVar Variation Id:
1334152
ClinVar RCV Id:
RCV002266019
dbSNP Id:
rs121909741
gnomAD v4:
3-171007171-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.171007171C>G , CM000665.2:g.171007171C>G | GRCh38 |
| NC_000003.11:g.170724960C>G , CM000665.1:g.170724960C>G | GRCh37 |
| NC_000003.10:g.172207654C>G | NCBI36 |
| NG_008108.1:g.24809G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000314251.8:c.589G>C MANE Select | ENSP00000323568.3:p.Val197Leu | |
| ENST00000314251.7:c.589G>C | ENSP00000323568.3:p.Val197Leu | |
| ENST00000461867.1:c.70G>C | ENSP00000418888.1:p.Val24Leu | |
| ENST00000469787.1:c.*56G>C | ENSP00000417918.1:n.*56G>C | |
| ENST00000471379.1:n.300G>C | ||
| ENST00000497642.5:c.*56G>C | ENSP00000418456.1:n.*56G>C | |
| NM_000340.1:c.589G>C | NP_000331.1:p.Val197Leu | |
| NM_001278658.1:c.232G>C | NP_001265587.1:p.Val78Leu | |
| NM_001278659.1:c.70G>C | NP_001265588.1:p.Val24Leu | |
| XM_011513087.1:c.544G>C | XP_011511389.1:p.Val182Leu | |
| XM_011513088.1:c.370G>C | XP_011511390.1:p.Val124Leu | |
| XM_011513089.1:c.70G>C | XP_011511391.1:p.Val24Leu | |
| XM_011513087.2:c.544G>C | XP_011511389.1:p.Val182Leu | |
| XM_024453720.1:c.70G>C | XP_024309488.1:p.Val24Leu | |
| NM_000340.2:c.589G>C MANE Select | NP_000331.1:p.Val197Leu | |
| NM_001278658.2:c.232G>C | NP_001265587.1:p.Val78Leu | |
| NM_001278659.2:c.70G>C | NP_001265588.1:p.Val24Leu |