Linked Data
ClinVar Variation Id:
246298
dbSNP Id:
rs534524789
gnomAD v2:
12-133263907-C-T
gnomAD v3:
12-132687321-C-T
gnomAD v4:
12-132687321-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.132687321C>T , CM000674.2:g.132687321C>T | GRCh38 |
| NC_000012.11:g.133263907C>T , CM000674.1:g.133263907C>T | GRCh37 |
| NC_000012.10:g.131773980C>T | NCBI36 |
| NG_033840.1:g.5204G>A , LRG_789:g.5204G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545015.2:n.22G>A | ||
| ENST00000699985.1:n.56G>A | ||
| ENST00000320574.10:c.-6G>A MANE Select | ENSP00000322570.5:n.-6G>A | |
| ENST00000672742.1:c.-6G>A | ENSP00000500279.1:n.-6G>A | |
| ENST00000320574.9:c.-6G>A | ENSP00000322570.5:n.-6G>A | |
| ENST00000535270.5:c.-6G>A | ENSP00000445753.1:n.-6G>A | |
| ENST00000537064.5:c.-6G>A | ENSP00000442578.1:n.-6G>A | |
| ENST00000539357.1:n.45G>A | ||
| NM_006231.3:c.-6G>A , LRG_789t1:c.-6G>A | NP_006222.2:n.-6G>A | |
| XM_011534795.1:c.-6G>A | XP_011533097.1:n.-6G>A | |
| XM_011534799.1:c.-6G>A | XP_011533101.1:n.-6G>A | |
| XM_011534800.1:c.-6G>A | XP_011533102.1:n.-6G>A | |
| XM_011534801.1:c.-6G>A | XP_011533103.1:n.-6G>A | |
| XR_941395.1:n.204G>A | ||
| XM_011534795.3:c.-6G>A | XP_011533097.1:n.-6G>A | |
| XM_011534799.2:c.-6G>A | XP_011533101.1:n.-6G>A | |
| XR_002957338.1:n.199G>A | ||
| XR_002957339.1:n.199G>A | ||
| XR_941395.2:n.199G>A | ||
| NM_006231.4:c.-6G>A MANE Select | NP_006222.2:n.-6G>A |