Linked Data
ClinVar Variation Id:
2891337
ClinVar RCV Id:
RCV003642561
dbSNP Id:
rs199469490
gnomAD v2:
3-93611983-G-C
gnomAD v3:
3-93893139-G-C
gnomAD v4:
3-93893139-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93893139G>C , CM000665.2:g.93893139G>C | GRCh38 |
| NC_000003.11:g.93611983G>C , CM000665.1:g.93611983G>C | GRCh37 |
| NC_000003.10:g.95094673G>C | NCBI36 |
| NG_009813.1:g.85952C>G , LRG_572:g.85952C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000348974.5:c.966-17C>G | ENSP00000330021.7:n.966-17C>G | |
| ENST00000394236.9:c.966-17C>G MANE Select | ENSP00000377783.3:n.966-17C>G | |
| ENST00000407433.6:c.921-17C>G | ENSP00000385794.2:n.921-17C>G | |
| ENST00000647936.1:c.966-17C>G | ENSP00000496822.1:n.966-17C>G | |
| ENST00000648381.1:n.1134-17C>G | ||
| ENST00000648853.1:c.924-17C>G | ENSP00000497262.1:n.924-17C>G | |
| ENST00000649103.1:c.1065-17C>G | ENSP00000497962.1:n.1065-17C>G | |
| ENST00000650591.1:c.1062-17C>G | ENSP00000497376.1:n.1062-17C>G | |
| ENST00000394236.7:c.966-17C>G | ENSP00000377783.3:n.966-17C>G | |
| ENST00000407433.5:c.573-17C>G | ENSP00000385794.1:n.573-17C>G | |
| NM_000313.3:c.966-17C>G , LRG_572t1:c.966-17C>G | NP_000304.2:n.966-17C>G | |
| NM_001314077.1:c.1062-17C>G , LRG_572t2:c.1062-17C>G | NP_001301006.1:n.1062-17C>G | |
| NM_000313.4:c.966-17C>G MANE Select | NP_000304.2:n.966-17C>G | |
| NM_001314077.2:c.1062-17C>G | NP_001301006.1:n.1062-17C>G |