Linked Data
ClinVar Variation Id:
2680823
ClinVar RCV Id:
RCV003468463
dbSNP Id:
rs1736934298
gnomAD v4:
4-177439690-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177439690T>C , CM000666.2:g.177439690T>C | GRCh38 |
| NC_000004.11:g.178360844T>C , CM000666.1:g.178360844T>C | GRCh37 |
| NC_000004.10:g.178597838T>C | NCBI36 |
| NG_011845.2:g.7814A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.282-2A>G MANE Select | ENSP00000264595.2:n.282-2A>G | |
| ENST00000264595.6:c.282-2A>G | ENSP00000264595.2:n.282-2A>G | |
| ENST00000506853.5:n.316-2A>G | ||
| ENST00000510955.5:n.315+583A>G | ||
| NM_000027.3:c.282-2A>G | NP_000018.2:n.282-2A>G | |
| NM_001171988.1:c.282-2A>G | NP_001165459.1:n.282-2A>G | |
| NR_033655.1:n.410-2A>G | ||
| XM_006714123.2:c.282-2A>G | XP_006714186.1:n.282-2A>G | |
| XR_001741155.2:n.376-2A>G | ||
| NM_000027.4:c.282-2A>G MANE Select | NP_000018.2:n.282-2A>G | |
| NM_001171988.2:c.282-2A>G | NP_001165459.1:n.282-2A>G | |
| NR_033655.2:n.344-2A>G |