Linked Data
ClinVar Variation Id:
281169
ClinVar RCV Id:
RCV000393125
RCV000499267
RCV001258225
RCV001520632
RCV002253344
RCV002253345
RCV002503979
dbSNP Id:
rs41278172
ExAC:
16:16255424 G / A
gnomAD v2:
16-16255424-G-A
gnomAD v3:
16-16161567-G-A
gnomAD v4:
16-16161567-G-A
PubMed:
PMID:12384774
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16161567G>A , CM000678.2:g.16161567G>A | GRCh38 |
| NC_000016.9:g.16255424G>A , CM000678.1:g.16255424G>A | GRCh37 |
| NC_000016.8:g.16162925G>A | NCBI36 |
| NG_007558.2:g.66905C>T | |
| NG_007558.3:g.67051C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000622290.5:c.3507-3C>T | ENSP00000483331.2:n.3507-3C>T | |
| ENST00000205557.12:c.3507-3C>T MANE Select | ENSP00000205557.7:n.3507-3C>T | |
| ENST00000640696.1:c.321-3C>T | ENSP00000492197.1:n.321-3C>T | |
| ENST00000205557.11:c.3507-3C>T | ENSP00000205557.7:n.3507-3C>T | |
| ENST00000456970.6:c.3132-3C>T | ENSP00000405002.2:n.3132-3C>T | |
| ENST00000622290.4:c.*716-3C>T | ENSP00000483331.1:n.*716-3C>T | |
| NM_001171.5:c.3507-3C>T | NP_001162.4:n.3507-3C>T | |
| XM_011522479.1:c.3474-3C>T | XP_011520781.1:n.3474-3C>T | |
| XM_011522480.1:c.3165-3C>T | XP_011520782.1:n.3165-3C>T | |
| XM_011522481.1:c.3165-3C>T | XP_011520783.1:n.3165-3C>T | |
| XR_932836.1:n.3742-3C>T | ||
| XR_932837.1:n.3543-3C>T | ||
| XR_932838.1:n.3543-3C>T | ||
| XR_933133.1:n.260-1129G>A | ||
| XR_933134.1:n.607-1129G>A | ||
| NM_001351800.1:c.3165-3C>T | NP_001338729.1:n.3165-3C>T | |
| NR_147784.1:n.3169-3C>T | ||
| XM_011522479.2:c.3474-3C>T | XP_011520781.1:n.3474-3C>T | |
| XM_011522481.3:c.3165-3C>T | XP_011520783.1:n.3165-3C>T | |
| XM_017023212.1:c.3339-3C>T | XP_016878701.1:n.3339-3C>T | |
| XM_017023214.1:c.3307-3C>T | XP_016878703.1:n.3307-3C>T | |
| XM_024450261.1:c.3543-3C>T | XP_024306029.1:n.3543-3C>T | |
| XR_932836.2:n.3688-3C>T | ||
| XR_932837.3:n.3488-3C>T | ||
| XR_932838.3:n.3488-3C>T | ||
| NM_001171.6:c.3507-3C>T MANE Select | NP_001162.5:n.3507-3C>T |