Linked Data
dbSNP Id:
rs174583
gnomAD v2:
11-61609750-C-T
gnomAD v3:
11-61842278-C-T
gnomAD v4:
11-61842278-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61842278C>T , CM000673.2:g.61842278C>T | GRCh38 |
| NC_000011.9:g.61609750C>T , CM000673.1:g.61609750C>T | GRCh37 |
| NC_000011.8:g.61366326C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000278840.9:c.618+1553C>T MANE Select | ENSP00000278840.4:n.618+1553C>T | |
| ENST00000257261.10:c.552+1553C>T | ENSP00000257261.6:n.552+1553C>T | |
| ENST00000278840.8:c.618+1553C>T | ENSP00000278840.4:n.618+1553C>T | |
| ENST00000517312.5:c.252+1553C>T | ENSP00000430225.1:n.252+1553C>T | |
| ENST00000518606.5:c.252+1553C>T | ENSP00000430054.1:n.252+1553C>T | |
| ENST00000520145.1:n.84+1553C>T | ||
| ENST00000521571.6:c.-85+1553C>T | ENSP00000443867.1:n.-85+1553C>T | |
| ENST00000521849.5:c.618+1553C>T | ENSP00000431091.1:n.618+1553C>T | |
| ENST00000522056.5:c.525+1553C>T | ENSP00000429500.1:n.525+1553C>T | |
| NM_001281501.1:c.552+1553C>T | NP_001268430.1:n.552+1553C>T | |
| NM_001281502.1:c.525+1553C>T | NP_001268431.1:n.525+1553C>T | |
| NM_004265.3:c.618+1553C>T | NP_004256.1:n.618+1553C>T | |
| XM_011545395.1:c.618+1553C>T | XP_011543697.1:n.618+1553C>T | |
| NM_004265.4:c.618+1553C>T MANE Select | NP_004256.1:n.618+1553C>T |