Linked Data
ClinVar Variation Id:
450248
dbSNP Id:
rs756140957
ExAC:
16:89845350 C / T
gnomAD v2:
16-89845350-C-T
gnomAD v4:
16-89778942-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89778942C>T , CM000678.2:g.89778942C>T | GRCh38 |
| NC_000016.9:g.89845350C>T , CM000678.1:g.89845350C>T | GRCh37 |
| NC_000016.8:g.88372851C>T | NCBI36 |
| NG_011706.1:g.42716G>A , LRG_495:g.42716G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561667.2:c.1776+1G>A | ENSP00000512522.1:n.1776+1G>A | |
| ENST00000564475.6:c.1776+1G>A | ENSP00000454977.2:n.1776+1G>A | |
| ENST00000567205.2:c.1776+1G>A | ENSP00000457027.2:n.1776+1G>A | |
| ENST00000567284.7:n.1819+1G>A | ||
| ENST00000567510.2:c.150+1G>A | ENSP00000455969.1:n.150+1G>A | |
| ENST00000568369.6:c.1776+1G>A | ENSP00000456829.1:n.1776+1G>A | |
| ENST00000696274.1:n.1737+1G>A | ||
| ENST00000696275.1:c.*1011+1G>A | ENSP00000512517.1:n.*1011+1G>A | |
| ENST00000696276.1:n.1819+1G>A | ||
| ENST00000696286.1:c.1776+1G>A | ENSP00000512523.1:n.1776+1G>A | |
| ENST00000696287.1:c.1776+1G>A | ENSP00000512524.1:n.1776+1G>A | |
| ENST00000696291.1:c.*1120+1G>A | ENSP00000512530.1:n.*1120+1G>A | |
| ENST00000389301.8:c.1776+1G>A MANE Select | ENSP00000373952.3:n.1776+1G>A | |
| ENST00000389301.7:c.1776+1G>A | ENSP00000373952.3:n.1776+1G>A | |
| ENST00000567510.1:c.150+1G>A | ENSP00000455969.1:n.150+1G>A | |
| ENST00000568369.5:c.1776+1G>A | ENSP00000456829.1:n.1776+1G>A | |
| NM_000135.2:c.1776+1G>A , LRG_495t1:c.1776+1G>A | NP_000126.2:n.1776+1G>A | |
| NM_001286167.1:c.1776+1G>A | NP_001273096.1:n.1776+1G>A | |
| XM_005256294.3:c.1776+1G>A | XP_005256351.1:n.1776+1G>A | |
| XM_011522945.1:c.1776+1G>A | XP_011521247.1:n.1776+1G>A | |
| XM_011522946.1:c.753+1G>A | XP_011521248.1:n.753+1G>A | |
| XM_011522947.1:c.753+1G>A | XP_011521249.1:n.753+1G>A | |
| XM_011522948.1:c.1776+1G>A | XP_011521250.1:n.1776+1G>A | |
| XR_933244.1:n.1819+1G>A | ||
| XR_933245.1:n.1819+1G>A | ||
| XR_933246.1:n.1819+1G>A | ||
| XR_933247.1:n.1819+1G>A | ||
| NM_000135.3:c.1776+1G>A | NP_000126.2:n.1776+1G>A | |
| NM_001286167.2:c.1776+1G>A | NP_001273096.1:n.1776+1G>A | |
| XM_005256294.4:c.1776+1G>A | XP_005256351.1:n.1776+1G>A | |
| XM_011522945.2:c.1776+1G>A | XP_011521247.1:n.1776+1G>A | |
| XM_011522946.3:c.753+1G>A | XP_011521248.1:n.753+1G>A | |
| XM_011522947.2:c.753+1G>A | XP_011521249.1:n.753+1G>A | |
| XM_011522948.2:c.1776+1G>A | XP_011521250.1:n.1776+1G>A | |
| XM_017023044.2:c.1776+1G>A | XP_016878533.1:n.1776+1G>A | |
| XM_017023045.1:c.1776+1G>A | XP_016878534.1:n.1776+1G>A | |
| XM_024450189.1:c.753+1G>A | XP_024305957.1:n.753+1G>A | |
| XR_001751866.1:n.1819+1G>A | ||
| XR_933244.2:n.1819+1G>A | ||
| XR_933245.2:n.1819+1G>A | ||
| XR_933247.2:n.1819+1G>A | ||
| NM_000135.4:c.1776+1G>A MANE Select | NP_000126.2:n.1776+1G>A | |
| NM_001286167.3:c.1776+1G>A | NP_001273096.1:n.1776+1G>A |