Linked Data
ClinVar Variation Id:
1345308
ClinVar RCV Id:
RCV002543450
dbSNP Id:
rs878855297
gnomAD v4:
5-1295046-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1295046T>C , CM000667.2:g.1295046T>C | GRCh38 |
| NC_000005.9:g.1295161T>C , CM000667.1:g.1295161T>C | GRCh37 |
| NC_000005.8:g.1348161T>C | NCBI36 |
| NG_009265.1:g.5002A>G , LRG_343:g.5002A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.-57A>G MANE Select | ENSP00000309572.5:n.-57A>G | |
| ENST00000656021.1:c.-57A>G | ENSP00000499759.1:n.-57A>G | |
| ENST00000310581.9:c.-57A>G | ENSP00000309572.5:n.-57A>G | |
| ENST00000522877.1:n.24A>G | ||
| NM_001193376.1:c.-57A>G | NP_001180305.1:n.-57A>G | |
| NM_198253.2:c.-57A>G , LRG_343t1:c.-57A>G | NP_937983.2:n.-57A>G | |
| NR_149162.1:n.2A>G | ||
| NR_149163.1:n.2A>G | ||
| NM_001193376.2:c.-57A>G | NP_001180305.1:n.-57A>G | |
| NM_198253.3:c.-57A>G MANE Select | NP_937983.2:n.-57A>G | |
| NR_149162.2:n.23A>G | ||
| NR_149163.2:n.23A>G | ||
| NM_001193376.3:c.-57A>G | NP_001180305.1:n.-57A>G | |
| NR_149162.3:n.23A>G | ||
| NR_149163.3:n.23A>G |