Linked Data
ClinVar Variation Id:
433400
ClinVar RCV Id:
RCV000499192
dbSNP Id:
rs72664203
PubMed:
PMID:17617515
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16219948C>G , CM000678.2:g.16219948C>G | GRCh38 |
| NC_000016.9:g.16313805C>G , CM000678.1:g.16313805C>G | GRCh37 |
| NC_000016.8:g.16221306C>G | NCBI36 |
| NG_007558.2:g.8524G>C | |
| NG_007558.3:g.8670G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000574094.6:c.220-1G>C | ENSP00000507301.1:n.220-1G>C | |
| ENST00000622290.5:c.220-1G>C | ENSP00000483331.2:n.220-1G>C | |
| ENST00000205557.12:c.220-1G>C MANE Select | ENSP00000205557.7:n.220-1G>C | |
| ENST00000205557.11:c.220-1G>C | ENSP00000205557.7:n.220-1G>C | |
| ENST00000456970.6:c.220-1G>C | ENSP00000405002.2:n.220-1G>C | |
| ENST00000574094.5:n.316-1G>C | ||
| ENST00000577103.1:c.*87-1G>C | ENSP00000459243.1:n.*87-1G>C | |
| ENST00000622290.4:c.220-1G>C | ENSP00000483331.1:n.220-1G>C | |
| NM_001171.5:c.220-1G>C | NP_001162.4:n.220-1G>C | |
| XM_011522479.1:c.220-1G>C | XP_011520781.1:n.220-1G>C | |
| XM_011522480.1:c.-123-1G>C | XP_011520782.1:n.-123-1G>C | |
| XM_011522481.1:c.-123-1G>C | XP_011520783.1:n.-123-1G>C | |
| XM_011522482.1:c.220-1G>C | XP_011520784.1:n.220-1G>C | |
| XR_932836.1:n.455-1G>C | ||
| XR_932837.1:n.456-1G>C | ||
| XR_932838.1:n.456-1G>C | ||
| NM_001351800.1:c.-123-1G>C | NP_001338729.1:n.-123-1G>C | |
| NR_147784.1:n.257-1G>C | ||
| XM_011522479.2:c.220-1G>C | XP_011520781.1:n.220-1G>C | |
| XM_011522481.3:c.-123-1G>C | XP_011520783.1:n.-123-1G>C | |
| XM_011522482.3:c.220-1G>C | XP_011520784.1:n.220-1G>C | |
| XM_017023212.1:c.220-1G>C | XP_016878701.1:n.220-1G>C | |
| XM_017023214.1:c.220-1G>C | XP_016878703.1:n.220-1G>C | |
| XM_024450261.1:c.256-1G>C | XP_024306029.1:n.256-1G>C | |
| XR_932836.2:n.401-1G>C | ||
| XR_932837.3:n.401-1G>C | ||
| XR_932838.3:n.401-1G>C | ||
| NM_001171.6:c.220-1G>C MANE Select | NP_001162.5:n.220-1G>C |