Linked Data
dbSNP Id:
rs571360310
gnomAD v2:
5-74636610-C-T
gnomAD v3:
5-75340785-C-T
gnomAD v4:
5-75340785-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.75340785C>T , CM000667.2:g.75340785C>T | GRCh38 |
| NC_000005.9:g.74636610C>T , CM000667.1:g.74636610C>T | GRCh37 |
| NC_000005.8:g.74672366C>T | NCBI36 |
| NG_011449.1:g.8618C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287936.9:c.-23-1798C>T MANE Select | ENSP00000287936.4:n.-23-1798C>T | |
| ENST00000679456.1:n.122-1798C>T | ||
| ENST00000680160.1:c.-23-1798C>T | ENSP00000505315.1:n.-23-1798C>T | |
| ENST00000680940.1:c.-24+97C>T | ENSP00000505561.1:n.-24+97C>T | |
| ENST00000681271.1:c.-23-1798C>T | ENSP00000505805.1:n.-23-1798C>T | |
| ENST00000681410.1:c.-23-1798C>T | ENSP00000506232.1:n.-23-1798C>T | |
| ENST00000681567.1:c.-23-1798C>T | ENSP00000506708.1:n.-23-1798C>T | |
| ENST00000287936.8:c.-23-1798C>T | ENSP00000287936.4:n.-23-1798C>T | |
| ENST00000343975.9:c.-23-1798C>T | ENSP00000340816.5:n.-23-1798C>T | |
| ENST00000442032.2:c.-24+1064C>T | ENSP00000409100.2:n.-24+1064C>T | |
| ENST00000507942.1:c.-23-1798C>T | ENSP00000427340.1:n.-23-1798C>T | |
| ENST00000509431.1:n.56-1798C>T | ||
| ENST00000511206.5:c.-23-1798C>T | ENSP00000426745.1:n.-23-1798C>T | |
| NM_000859.2:c.-23-1798C>T | NP_000850.1:n.-23-1798C>T | |
| NM_001130996.1:c.-23-1798C>T | NP_001124468.1:n.-23-1798C>T | |
| XM_011543357.1:c.38-1798C>T | XP_011541659.1:n.38-1798C>T | |
| XM_011543358.1:c.-23-1798C>T | XP_011541660.1:n.-23-1798C>T | |
| XM_011543359.1:c.38-1798C>T | XP_011541661.1:n.38-1798C>T | |
| NM_001364187.1:c.-23-1798C>T | NP_001351116.1:n.-23-1798C>T | |
| NM_000859.3:c.-23-1798C>T MANE Select | NP_000850.1:n.-23-1798C>T | |
| NM_001130996.2:c.-23-1798C>T | NP_001124468.1:n.-23-1798C>T |