Linked Data
dbSNP Id:
rs761701186
ExAC:
11:1775175 G / T
gnomAD v2:
11-1775175-G-T
gnomAD v4:
11-1753945-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1753945G>T , CM000673.2:g.1753945G>T | GRCh38 |
| NC_000011.9:g.1775175G>T , CM000673.1:g.1775175G>T | GRCh37 |
| NC_000011.8:g.1731751G>T | NCBI36 |
| NG_008655.1:g.15048C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.973-44C>A MANE Select | ENSP00000236671.2:n.973-44C>A | |
| ENST00000367196.4:c.868-44C>A | ENSP00000356164.4:n.868-44C>A | |
| ENST00000427721.3:c.398-44C>A | ||
| ENST00000429746.2:c.868-44C>A | ENSP00000402586.2:n.868-44C>A | |
| ENST00000433655.6:c.*139-44C>A | ENSP00000404902.1:n.*139-44C>A | |
| ENST00000438213.6:c.1090-44C>A | ENSP00000415036.2:n.1090-44C>A | |
| ENST00000497544.3:n.637C>A | ||
| ENST00000636397.1:c.973-44C>A | ENSP00000489910.1:n.973-44C>A | |
| ENST00000636571.1:c.952-44C>A | ENSP00000490770.1:n.952-44C>A | |
| ENST00000636615.1:c.973-44C>A | ENSP00000490014.1:n.973-44C>A | |
| ENST00000636843.1:c.967-44C>A | ENSP00000490897.1:n.967-44C>A | |
| ENST00000637158.1:n.571-44C>A | ||
| ENST00000637381.2:n.3401-44C>A | ||
| ENST00000637387.1:c.972+49C>A | ENSP00000490598.1:n.972+49C>A | |
| ENST00000637815.2:c.955-44C>A | ENSP00000490344.1:n.955-44C>A | |
| ENST00000637915.1:c.973-44C>A | ENSP00000490471.1:n.973-44C>A | |
| ENST00000637937.1:n.281-44C>A | ||
| ENST00000678991.1:c.*834-44C>A | ENSP00000503019.1:n.*834-44C>A | |
| ENST00000236671.6:c.973-44C>A | ENSP00000236671.2:n.973-44C>A | |
| ENST00000427721.2:c.373-44C>A | ENSP00000415840.2:n.373-44C>A | |
| ENST00000429746.1:c.304-44C>A | ENSP00000402586.1:n.304-44C>A | |
| ENST00000433655.5:c.*139-44C>A | ENSP00000404902.1:n.*139-44C>A | |
| ENST00000497544.1:n.637C>A | ||
| NM_001909.4:c.973-44C>A | NP_001900.1:n.973-44C>A | |
| NM_001909.5:c.973-44C>A MANE Select | NP_001900.1:n.973-44C>A |