Linked Data
ClinVar Variation Id:
465233
ClinVar RCV Id:
RCV002231789
dbSNP Id:
rs911853469
gnomAD v4:
11-112094796-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112094796T>G , CM000673.2:g.112094796T>G | GRCh38 |
| NC_000011.9:g.111965520T>G , CM000673.1:g.111965520T>G | GRCh37 |
| NC_000011.8:g.111470730T>G | NCBI36 |
| NG_012337.2:g.12950T>G | |
| NG_012337.3:g.12950T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000530923.6:c.*54-9T>G | ENSP00000432946.2:n.*54-9T>G | |
| ENST00000534010.2:c.314+5785T>G | ENSP00000433202.2:n.314+5785T>G | |
| ENST00000375549.8:c.315-9T>G MANE Select | ENSP00000364699.3:n.315-9T>G | |
| ENST00000528021.6:c.314+5785T>G | ENSP00000432465.1:n.314+5785T>G | |
| ENST00000375549.7:c.315-9T>G | ENSP00000364699.3:n.315-9T>G | |
| ENST00000525291.5:c.198-9T>G | ENSP00000436669.1:n.198-9T>G | |
| ENST00000525987.5:n.319+5785T>G | ||
| ENST00000526592.5:c.*13-9T>G | ENSP00000432005.1:n.*13-9T>G | |
| ENST00000528021.5:c.314+5785T>G | ENSP00000432465.1:n.314+5785T>G | |
| ENST00000528048.5:c.170-9T>G | ENSP00000436217.1:n.170-9T>G | |
| ENST00000528182.5:c.308-9T>G | ENSP00000435475.1:n.308-9T>G | |
| ENST00000530923.5:c.359-9T>G | ||
| ENST00000531744.5:c.314+5785T>G | ENSP00000456957.1:n.314+5785T>G | |
| ENST00000532699.1:c.314+5785T>G | ENSP00000456434.1:n.314+5785T>G | |
| ENST00000534010.1:c.145+5785T>G | ||
| NM_001276503.1:c.170-9T>G | NP_001263432.1:n.170-9T>G | |
| NM_001276504.1:c.198-9T>G | NP_001263433.1:n.198-9T>G | |
| NM_001276506.1:c.*13-9T>G | NP_001263435.1:n.*13-9T>G | |
| NM_003002.3:c.315-9T>G | NP_002993.1:n.315-9T>G | |
| NR_077060.1:n.453-9T>G | ||
| NM_003002.4:c.315-9T>G MANE Select | NP_002993.1:n.315-9T>G | |
| NM_001276503.2:c.170-9T>G | NP_001263432.1:n.170-9T>G | |
| NM_001276504.2:c.198-9T>G | NP_001263433.1:n.198-9T>G | |
| NM_001276506.2:c.*13-9T>G | NP_001263435.1:n.*13-9T>G | |
| NR_077060.2:n.404-9T>G |