Linked Data
ClinVar Variation Id:
433372
ClinVar RCV Id:
RCV000499257
dbSNP Id:
rs72657702
gnomAD v2:
16-16315689-C-T
gnomAD v3:
16-16221832-C-T
gnomAD v4:
16-16221832-C-T
PubMed:
PMID:16835894
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16221832C>T , CM000678.2:g.16221832C>T | GRCh38 |
| NC_000016.9:g.16315689C>T , CM000678.1:g.16315689C>T | GRCh37 |
| NC_000016.8:g.16223190C>T | NCBI36 |
| NG_007558.2:g.6640G>A | |
| NG_007558.3:g.6786G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000574094.6:c.37-1G>A | ENSP00000507301.1:n.37-1G>A | |
| ENST00000622290.5:c.37-1G>A | ENSP00000483331.2:n.37-1G>A | |
| ENST00000205557.12:c.37-1G>A MANE Select | ENSP00000205557.7:n.37-1G>A | |
| ENST00000205557.11:c.37-1G>A | ENSP00000205557.7:n.37-1G>A | |
| ENST00000456970.6:c.37-1G>A | ENSP00000405002.2:n.37-1G>A | |
| ENST00000574094.5:n.97-1G>A | ||
| ENST00000575728.1:c.37-1G>A | ENSP00000461686.1:n.37-1G>A | |
| ENST00000577103.1:c.37-1G>A | ENSP00000459243.1:n.37-1G>A | |
| ENST00000622290.4:c.37-1G>A | ENSP00000483331.1:n.37-1G>A | |
| NM_001079528.3:c.37-1G>A | NP_001072996.1:n.37-1G>A | |
| NM_001171.5:c.37-1G>A | NP_001162.4:n.37-1G>A | |
| XM_011522479.1:c.37-1G>A | XP_011520781.1:n.37-1G>A | |
| XM_011522482.1:c.37-1G>A | XP_011520784.1:n.37-1G>A | |
| XR_932836.1:n.272-1G>A | ||
| XR_932837.1:n.273-1G>A | ||
| XR_932838.1:n.273-1G>A | ||
| NM_001079528.4:c.37-1G>A | NP_001072996.1:n.37-1G>A | |
| NM_001351800.1:c.-337-1G>A | NP_001338729.1:n.-337-1G>A | |
| NR_147784.1:n.74-1G>A | ||
| XM_011522479.2:c.37-1G>A | XP_011520781.1:n.37-1G>A | |
| XM_011522482.3:c.37-1G>A | XP_011520784.1:n.37-1G>A | |
| XM_017023212.1:c.37-1G>A | XP_016878701.1:n.37-1G>A | |
| XM_017023214.1:c.37-1G>A | XP_016878703.1:n.37-1G>A | |
| XM_024450261.1:c.37-1G>A | XP_024306029.1:n.37-1G>A | |
| XR_932836.2:n.218-1G>A | ||
| XR_932837.3:n.218-1G>A | ||
| XR_932838.3:n.218-1G>A | ||
| NM_001171.6:c.37-1G>A MANE Select | NP_001162.5:n.37-1G>A |