Linked Data
dbSNP Id:
rs958200092
gnomAD v2:
11-2484761-C-T
gnomAD v3:
11-2463531-C-T
gnomAD v4:
11-2463531-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2463531C>T , CM000673.2:g.2463531C>T | GRCh38 |
| NC_000011.9:g.2484761C>T , CM000673.1:g.2484761C>T | GRCh37 |
| NC_000011.8:g.2441337C>T | NCBI36 |
| NG_008935.1:g.23541C>T , LRG_287:g.23541C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380776.5:n.91+1554C>T | ||
| ENST00000496887.7:c.125+18047C>T | ENSP00000434560.2:n.125+18047C>T | |
| ENST00000646564.2:c.386+18047C>T | ENSP00000495806.2:n.386+18047C>T | |
| ENST00000155840.12:c.386+18047C>T MANE Select | ENSP00000155840.2:n.386+18047C>T | |
| ENST00000335475.6:c.5+1817C>T | ENSP00000334497.5:n.5+1817C>T | |
| ENST00000646564.1:c.32+18047C>T | ENSP00000495806.1:n.32+18047C>T | |
| ENST00000155840.9:c.386+18047C>T | ENSP00000155840.2:n.386+18047C>T | |
| ENST00000335475.5:c.5+1817C>T | ENSP00000334497.5:n.5+1817C>T | |
| ENST00000345015.4:n.163+18047C>T | ||
| ENST00000380776.4:c.84+1554C>T | ENSP00000370153.4:n.84+1554C>T | |
| ENST00000496887.6:c.125+18047C>T | ENSP00000434560.1:n.125+18047C>T | |
| NM_000218.2:c.386+18047C>T , LRG_287t1:c.386+18047C>T | NP_000209.2:n.386+18047C>T | |
| NM_181798.1:c.5+1817C>T , LRG_287t2:c.5+1817C>T | NP_861463.1:n.5+1817C>T | |
| NM_000218.3:c.386+18047C>T MANE Select | NP_000209.2:n.386+18047C>T |