Linked Data
ClinVar Variation Id:
1670249
ClinVar RCV Id:
RCV002201428
dbSNP Id:
rs1728583725
gnomAD v4:
4-47406673-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.47406673C>G , CM000666.2:g.47406673C>G | GRCh38 |
| NC_000004.11:g.47408690C>G , CM000666.1:g.47408690C>G | GRCh37 |
| NC_000004.10:g.47103447C>G | NCBI36 |
| NG_051831.1:g.380396C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295454.8:c.836-9C>G MANE Select | ENSP00000295454.3:n.836-9C>G | |
| ENST00000295454.7:c.836-9C>G | ENSP00000295454.3:n.836-9C>G | |
| NM_000812.3:c.836-9C>G | NP_000803.2:n.836-9C>G | |
| XM_011513678.1:c.815-9C>G | XP_011511980.1:n.815-9C>G | |
| XM_017007985.1:c.185-9C>G | XP_016863474.1:n.185-9C>G | |
| XM_024453976.1:c.737-9C>G | XP_024309744.1:n.737-9C>G | |
| XM_024453977.1:c.737-9C>G | XP_024309745.1:n.737-9C>G | |
| XM_024453978.1:c.737-9C>G | XP_024309746.1:n.737-9C>G | |
| NM_000812.4:c.836-9C>G MANE Select | NP_000803.2:n.836-9C>G |