Linked Data
ClinVar Variation Id:
337484
ClinVar RCV Id:
RCV000404722
dbSNP Id:
rs3770239
gnomAD v2:
2-96918245-A-G
gnomAD v3:
2-96252507-A-G
gnomAD v4:
2-96252507-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96252507A>G , CM000664.2:g.96252507A>G | GRCh38 |
| NC_000002.11:g.96918245A>G , CM000664.1:g.96918245A>G | GRCh37 |
| NC_000002.10:g.96281972A>G | NCBI36 |
| NG_027695.1:g.18507T>C , LRG_528:g.18507T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258439.8:c.*1301T>C MANE Select | ENSP00000258439.3:n.*1301T>C | |
| ENST00000258439.7:c.*1301T>C | ENSP00000258439.2:n.*1301T>C | |
| ENST00000432959.1:c.*1301T>C | ENSP00000416660.1:n.*1301T>C | |
| NM_001193304.2:c.*1301T>C | NP_001180233.1:n.*1301T>C | |
| NM_017849.3:c.*1301T>C , LRG_528t1:c.*1301T>C | NP_060319.1:n.*1301T>C | |
| XM_017004450.1:c.*602T>C | XP_016859939.1:n.*602T>C | |
| XM_017004452.1:c.*1301T>C | XP_016859941.1:n.*1301T>C | |
| NM_001193304.3:c.*1301T>C | NP_001180233.1:n.*1301T>C | |
| NM_017849.4:c.*1301T>C MANE Select | NP_060319.1:n.*1301T>C |