Linked Data
ClinVar Variation Id:
337466
ClinVar RCV Id:
RCV000343247
dbSNP Id:
rs886056438
gnomAD v3:
2-96251563-T-C
gnomAD v4:
2-96251563-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96251563T>C , CM000664.2:g.96251563T>C | GRCh38 |
| NC_000002.11:g.96917301T>C , CM000664.1:g.96917301T>C | GRCh37 |
| NC_000002.10:g.96281028T>C | NCBI36 |
| NG_027695.1:g.19451A>G , LRG_528:g.19451A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258439.8:c.*2245A>G MANE Select | ENSP00000258439.3:n.*2245A>G | |
| ENST00000258439.7:c.*2245A>G | ENSP00000258439.2:n.*2245A>G | |
| NM_001193304.2:c.*2245A>G | NP_001180233.1:n.*2245A>G | |
| NM_017849.3:c.*2245A>G , LRG_528t1:c.*2245A>G | NP_060319.1:n.*2245A>G | |
| XM_017004450.1:c.*1546A>G | XP_016859939.1:n.*1546A>G | |
| XM_017004452.1:c.*2245A>G | XP_016859941.1:n.*2245A>G | |
| NM_001193304.3:c.*2245A>G | NP_001180233.1:n.*2245A>G | |
| NM_017849.4:c.*2245A>G MANE Select | NP_060319.1:n.*2245A>G |