Linked Data
dbSNP Id:
rs12472151
gnomAD v2:
2-234852692-G-A
gnomAD v3:
2-233944048-G-A
gnomAD v4:
2-233944048-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233944048G>A , CM000664.2:g.233944048G>A | GRCh38 |
| NC_000002.11:g.234852692G>A , CM000664.1:g.234852692G>A | GRCh37 |
| NC_000002.10:g.234517431G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324695.9:c.699+1300G>A MANE Select | ENSP00000323926.4:n.699+1300G>A | |
| ENST00000324695.8:c.699+1300G>A | ENSP00000323926.4:n.699+1300G>A | |
| ENST00000433712.6:c.-25+1300G>A | ENSP00000404423.3:n.-25+1300G>A | |
| ENST00000444298.5:c.699+1300G>A | ENSP00000396745.1:n.699+1300G>A | |
| NM_024080.4:c.699+1300G>A | NP_076985.4:n.699+1300G>A | |
| XM_011511810.1:c.699+1300G>A | XP_011510112.1:n.699+1300G>A | |
| XM_011511810.2:c.699+1300G>A | XP_011510112.1:n.699+1300G>A | |
| XM_017004891.1:c.468+1300G>A | XP_016860380.1:n.468+1300G>A | |
| XM_024453132.1:c.468+1300G>A | XP_024308900.1:n.468+1300G>A | |
| NM_024080.5:c.699+1300G>A MANE Select | NP_076985.4:n.699+1300G>A | |
| NM_001397606.1:c.699+1300G>A | NP_001384535.1:n.699+1300G>A | |
| NM_001397607.1:c.549+1300G>A | NP_001384536.1:n.549+1300G>A | |
| NM_001397608.1:c.699+1300G>A | NP_001384537.1:n.699+1300G>A | |
| NM_001397609.1:c.468+1300G>A | NP_001384538.1:n.468+1300G>A | |
| NM_001397610.1:c.468+1300G>A | NP_001384539.1:n.468+1300G>A | |
| NM_001397611.1:c.468+1300G>A | NP_001384540.1:n.468+1300G>A | |
| NM_001397612.1:c.468+1300G>A | NP_001384541.1:n.468+1300G>A | |
| NM_001397613.1:c.468+1300G>A | NP_001384542.1:n.468+1300G>A | |
| NM_001397615.1:c.-312+1300G>A | NP_001384544.1:n.-312+1300G>A | |
| NM_001397635.1:c.29-3040G>A | NP_001384564.1:n.29-3040G>A |