Linked Data
dbSNP Id:
rs3772627
gnomAD v2:
3-148430254-A-G
gnomAD v3:
3-148712467-A-G
gnomAD v4:
3-148712467-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.148712467A>G , CM000665.2:g.148712467A>G | GRCh38 |
| NC_000003.11:g.148430254A>G , CM000665.1:g.148430254A>G | GRCh37 |
| NC_000003.10:g.149912944A>G | NCBI36 |
| NG_008468.1:g.19597A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000349243.8:c.-48+4440A>G MANE Select | ENSP00000273430.3:n.-48+4440A>G | |
| ENST00000418473.7:c.-106+14340A>G | ENSP00000398832.4:n.-106+14340A>G | |
| ENST00000349243.7:c.-48+4440A>G | ENSP00000273430.3:n.-48+4440A>G | |
| ENST00000404754.2:c.-48+14318A>G | ENSP00000385612.2:n.-48+14318A>G | |
| ENST00000475166.5:n.216+4440A>G | ||
| ENST00000497524.5:c.-48+14340A>G | ENSP00000419422.1:n.-48+14340A>G | |
| NM_000685.4:c.-48+4440A>G | NP_000676.1:n.-48+4440A>G | |
| NM_004835.4:c.-1+14340A>G | NP_004826.5:n.-1+14340A>G | |
| NM_009585.3:c.-48+14340A>G | NP_033611.1:n.-48+14340A>G | |
| NM_031850.3:c.-1+4440A>G | NP_114038.4:n.-1+4440A>G | |
| NM_000685.5:c.-48+4440A>G MANE Select | NP_000676.1:n.-48+4440A>G | |
| NM_001382736.1:c.-48+14318A>G | NP_001369665.1:n.-48+14318A>G | |
| NM_001382737.1:c.-48+4440A>G | NP_001369666.1:n.-48+4440A>G | |
| NM_004835.5:c.-106+14340A>G | NP_004826.6:n.-106+14340A>G | |
| NM_009585.4:c.-48+14340A>G | NP_033611.1:n.-48+14340A>G | |
| NM_031850.4:c.-106+4440A>G | NP_114038.5:n.-106+4440A>G | |
| NM_032049.4:c.-263+14340A>G | NP_114438.3:n.-263+14340A>G |