Linked Data
ClinVar Variation Id:
777269
dbSNP Id:
rs117981500
ExAC:
16:56938301 G / A
gnomAD v2:
16-56938301-G-A
gnomAD v3:
16-56904389-G-A
gnomAD v4:
16-56904389-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56904389G>A , CM000678.2:g.56904389G>A | GRCh38 |
| NC_000016.9:g.56938301G>A , CM000678.1:g.56938301G>A | GRCh37 |
| NC_000016.8:g.55495802G>A | NCBI36 |
| NG_009386.1:g.44183G>A | |
| NG_009386.2:g.44183G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000563236.6:c.2857-6G>A MANE Select | ENSP00000456149.2:n.2857-6G>A | |
| ENST00000262502.5:c.2854-6G>A | ENSP00000262502.5:n.2854-6G>A | |
| ENST00000438926.6:c.2884-6G>A | ENSP00000402152.2:n.2884-6G>A | |
| ENST00000563236.5:c.2857-6G>A | ENSP00000456149.1:n.2857-6G>A | |
| ENST00000566786.5:c.2881-6G>A | ENSP00000457552.1:n.2881-6G>A | |
| ENST00000569002.1:n.288-6G>A | ||
| NM_000339.2:c.2884-6G>A | NP_000330.2:n.2884-6G>A | |
| NM_001126107.1:c.2881-6G>A | NP_001119579.1:n.2881-6G>A | |
| NM_001126108.1:c.2857-6G>A | NP_001119580.1:n.2857-6G>A | |
| XM_005256119.1:c.2854-6G>A | XP_005256176.1:n.2854-6G>A | |
| XM_005256119.2:c.2854-6G>A | XP_005256176.1:n.2854-6G>A | |
| NM_000339.3:c.2884-6G>A | NP_000330.3:n.2884-6G>A | |
| NM_001126107.2:c.2881-6G>A | NP_001119579.2:n.2881-6G>A | |
| NM_001126108.2:c.2857-6G>A MANE Select | NP_001119580.2:n.2857-6G>A |