Linked Data
ClinVar Variation Id:
337221
ClinVar RCV Id:
RCV000301164
dbSNP Id:
rs572084939
gnomAD v2:
2-85774773-G-C
gnomAD v3:
2-85547650-G-C
gnomAD v4:
2-85547650-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85547650G>C , CM000664.2:g.85547650G>C | GRCh38 |
| NC_000002.11:g.85774773G>C , CM000664.1:g.85774773G>C | GRCh37 |
| NC_000002.10:g.85628284G>C | NCBI36 |
| NG_011811.2:g.18885C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233838.9:c.*2284C>G MANE Select | ENSP00000233838.3:n.*2284C>G | |
| ENST00000233838.8:c.*2284C>G | ENSP00000233838.3:n.*2284C>G | |
| ENST00000465637.5:n.533C>G | ||
| NM_000821.5:c.*2284C>G | NP_000812.2:n.*2284C>G | |
| NM_000821.6:c.*2284C>G | NP_000812.2:n.*2284C>G | |
| NM_001142269.2:c.*2284C>G | NP_001135741.1:n.*2284C>G | |
| NM_001142269.3:c.*2284C>G | NP_001135741.1:n.*2284C>G | |
| NM_000821.7:c.*2284C>G MANE Select | NP_000812.2:n.*2284C>G | |
| NM_001142269.4:c.*2284C>G | NP_001135741.1:n.*2284C>G |