Linked Data
dbSNP Id:
rs13188386
gnomAD v2:
5-42473555-G-A
gnomAD v3:
5-42473453-G-A
gnomAD v4:
5-42473453-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.42473453G>A , CM000667.2:g.42473453G>A | GRCh38 |
| NC_000005.9:g.42473555G>A , CM000667.1:g.42473555G>A | GRCh37 |
| NC_000005.8:g.42509312G>A | NCBI36 |
| NG_011688.1:g.54530G>A | |
| NG_011688.2:g.54530G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000230882.9:c.-12+49498G>A MANE Select | ENSP00000230882.4:n.-12+49498G>A | |
| ENST00000230882.8:c.-12+49498G>A | ENSP00000230882.4:n.-12+49498G>A | |
| ENST00000513671.5:c.-12+48855G>A | ENSP00000426739.1:n.-12+48855G>A | |
| ENST00000615111.4:c.-296-40627G>A | ENSP00000478291.1:n.-296-40627G>A | |
| ENST00000620156.4:c.10+48855G>A | ENSP00000483403.1:n.10+48855G>A | |
| NM_000163.4:c.-12+49498G>A | NP_000154.1:n.-12+49498G>A | |
| NM_001242399.2:c.10+48855G>A | NP_001229328.1:n.10+48855G>A | |
| NM_001242400.2:c.-296-40627G>A | NP_001229329.1:n.-296-40627G>A | |
| NM_001242401.3:c.-104-9784G>A | NP_001229330.1:n.-104-9784G>A | |
| XM_011514031.1:c.10+48855G>A | XP_011512333.1:n.10+48855G>A | |
| NM_000163.5:c.-12+49498G>A MANE Select | NP_000154.1:n.-12+49498G>A | |
| NM_001242401.4:c.-104-9784G>A | NP_001229330.1:n.-104-9784G>A |