Linked Data
ClinVar Variation Id:
337475
ClinVar RCV Id:
RCV000387700
dbSNP Id:
rs551671260
gnomAD v2:
2-96917727-G-C
gnomAD v3:
2-96251989-G-C
gnomAD v4:
2-96251989-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96251989G>C , CM000664.2:g.96251989G>C | GRCh38 |
| NC_000002.11:g.96917727G>C , CM000664.1:g.96917727G>C | GRCh37 |
| NC_000002.10:g.96281454G>C | NCBI36 |
| NG_027695.1:g.19025C>G , LRG_528:g.19025C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258439.8:c.*1819C>G MANE Select | ENSP00000258439.3:n.*1819C>G | |
| ENST00000258439.7:c.*1819C>G | ENSP00000258439.2:n.*1819C>G | |
| ENST00000432959.1:c.*1819C>G | ENSP00000416660.1:n.*1819C>G | |
| NM_001193304.2:c.*1819C>G | NP_001180233.1:n.*1819C>G | |
| NM_017849.3:c.*1819C>G , LRG_528t1:c.*1819C>G | NP_060319.1:n.*1819C>G | |
| XM_017004450.1:c.*1120C>G | XP_016859939.1:n.*1120C>G | |
| XM_017004452.1:c.*1819C>G | XP_016859941.1:n.*1819C>G | |
| NM_001193304.3:c.*1819C>G | NP_001180233.1:n.*1819C>G | |
| NM_017849.4:c.*1819C>G MANE Select | NP_060319.1:n.*1819C>G |