Linked Data
dbSNP Id:
rs547486557
gnomAD v2:
14-88448448-G-A
gnomAD v3:
14-87982104-G-A
gnomAD v4:
14-87982104-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87982104G>A , CM000676.2:g.87982104G>A | GRCh38 |
| NC_000014.8:g.88448448G>A , CM000676.1:g.88448448G>A | GRCh37 |
| NC_000014.7:g.87518201G>A | NCBI36 |
| NG_011853.2:g.16460C>T | |
| NG_011853.3:g.16460C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.621+101C>T MANE Select | ENSP00000261304.2:n.621+101C>T | |
| ENST00000261304.6:c.621+101C>T | ENSP00000261304.2:n.621+101C>T | |
| ENST00000393568.8:c.552+101C>T | ENSP00000377198.4:n.552+101C>T | |
| ENST00000393569.6:c.543+101C>T | ENSP00000377199.2:n.543+101C>T | |
| ENST00000474294.6:n.611+101C>T | ||
| ENST00000544807.6:c.453+101C>T | ENSP00000437513.2:n.453+101C>T | |
| ENST00000554916.5:n.500+101C>T | ||
| ENST00000556261.5:n.322+101C>T | ||
| ENST00000557316.5:c.621+101C>T | ENSP00000452314.1:n.621+101C>T | |
| ENST00000622264.4:c.611+101C>T | ||
| NM_000153.3:c.621+101C>T | NP_000144.2:n.621+101C>T | |
| NM_001201401.1:c.552+101C>T | NP_001188330.1:n.552+101C>T | |
| NM_001201402.1:c.543+101C>T | NP_001188331.1:n.543+101C>T | |
| XM_011536618.1:c.453+101C>T | XP_011534920.1:n.453+101C>T | |
| XM_011536618.2:c.453+101C>T | XP_011534920.1:n.453+101C>T | |
| NM_000153.4:c.621+101C>T MANE Select | NP_000144.2:n.621+101C>T | |
| NM_001201401.2:c.552+101C>T | NP_001188330.1:n.552+101C>T | |
| NM_001201402.2:c.543+101C>T | NP_001188331.1:n.543+101C>T |