Linked Data
dbSNP Id:
rs140555676
gnomAD v2:
8-58986396-G-T
gnomAD v3:
8-58073837-G-T
gnomAD v4:
8-58073837-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.58073837G>T , CM000670.2:g.58073837G>T | GRCh38 |
| NC_000008.10:g.58986396G>T , CM000670.1:g.58986396G>T | GRCh37 |
| NC_000008.9:g.59148950G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000519262.6:c.-413-1698G>T MANE Select | ENSP00000509301.1:n.-413-1698G>T | |
| ENST00000361488.7:c.-413-1698G>T | ENSP00000355204.3:n.-413-1698G>T | |
| ENST00000518427.5:n.182-1698G>T | ||
| ENST00000519262.5:n.397-1698G>T | ||
| ENST00000520369.5:n.338-1698G>T | ||
| ENST00000521413.1:n.46-1698G>T | ||
| ENST00000522059.5:n.89-1698G>T | ||
| ENST00000523486.5:n.137-1698G>T | ||
| NM_147189.2:c.-413-1698G>T | NP_671722.1:n.-413-1698G>T | |
| XM_005251324.1:c.-413-1698G>T | XP_005251381.1:n.-413-1698G>T | |
| XM_005251325.2:c.-413-1698G>T | XP_005251382.1:n.-413-1698G>T | |
| XM_005251326.1:c.-413-1698G>T | XP_005251383.1:n.-413-1698G>T | |
| XM_005251324.3:c.-413-1698G>T | XP_005251381.1:n.-413-1698G>T | |
| XM_005251325.3:c.-413-1698G>T | XP_005251382.1:n.-413-1698G>T | |
| XM_005251326.3:c.-413-1698G>T | XP_005251383.1:n.-413-1698G>T | |
| XM_017013948.1:c.-413-1698G>T | XP_016869437.1:n.-413-1698G>T | |
| NM_147189.3:c.-413-1698G>T | NP_671722.1:n.-413-1698G>T | |
| NM_001377989.1:c.-413-1698G>T MANE Select | NP_001364918.1:n.-413-1698G>T | |
| NM_001377997.1:c.-413-1698G>T | NP_001364926.1:n.-413-1698G>T | |
| NM_001377998.1:c.-413-1698G>T | NP_001364927.1:n.-413-1698G>T | |
| NM_147189.4:c.-413-1698G>T | NP_671722.1:n.-413-1698G>T |