Linked Data
dbSNP Id:
rs16888997
gnomAD v2:
8-117876408-C-T
gnomAD v3:
8-116864169-C-T
gnomAD v4:
8-116864169-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.116864169C>T , CM000670.2:g.116864169C>T | GRCh38 |
| NC_000008.10:g.117876408C>T , CM000670.1:g.117876408C>T | GRCh37 |
| NC_000008.9:g.117945589C>T | NCBI36 |
| NG_032862.1:g.15698G>A , LRG_772:g.15698G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000517485.6:c.145-910G>A | ENSP00000427923.2:n.145-910G>A | |
| ENST00000517749.2:c.145-910G>A | ENSP00000430273.2:n.145-910G>A | |
| ENST00000519469.2:n.407-910G>A | ||
| ENST00000519837.6:c.145-910G>A | ENSP00000430524.2:n.145-910G>A | |
| ENST00000520992.6:c.145-910G>A | ENSP00000429342.2:n.145-910G>A | |
| ENST00000522699.2:c.145-910G>A | ENSP00000428158.2:n.145-910G>A | |
| ENST00000523547.2:n.255-910G>A | ||
| ENST00000685972.1:n.228-910G>A | ||
| ENST00000686622.1:n.242-910G>A | ||
| ENST00000687122.1:n.2063G>A | ||
| ENST00000687358.1:c.145-910G>A | ENSP00000509687.1:n.145-910G>A | |
| ENST00000687902.1:c.145-910G>A | ENSP00000510729.1:n.145-910G>A | |
| ENST00000688033.1:n.215-910G>A | ||
| ENST00000689504.1:n.255-910G>A | ||
| ENST00000690166.1:n.45-910G>A | ||
| ENST00000690189.1:n.1050G>A | ||
| ENST00000297338.7:c.145-910G>A MANE Select | ENSP00000297338.2:n.145-910G>A | |
| ENST00000297338.6:c.145-910G>A | ENSP00000297338.2:n.145-910G>A | |
| ENST00000517485.5:c.145-910G>A | ENSP00000427923.1:n.145-910G>A | |
| ENST00000519469.1:n.407-910G>A | ||
| ENST00000519837.5:c.145-910G>A | ENSP00000430524.1:n.145-910G>A | |
| ENST00000520992.5:c.145-910G>A | ENSP00000429342.1:n.145-910G>A | |
| ENST00000522699.1:c.145-910G>A | ENSP00000428158.1:n.145-910G>A | |
| ENST00000523547.1:n.387-910G>A | ||
| NM_006265.2:c.145-910G>A , LRG_772t1:c.145-910G>A | NP_006256.1:n.145-910G>A | |
| NM_006265.3:c.145-910G>A MANE Select | NP_006256.1:n.145-910G>A |