Linked Data
dbSNP Id:
rs389566
gnomAD v2:
3-148446382-A-T
gnomAD v3:
3-148728595-A-T
gnomAD v4:
3-148728595-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.148728595A>T , CM000665.2:g.148728595A>T | GRCh38 |
| NC_000003.11:g.148446382A>T , CM000665.1:g.148446382A>T | GRCh37 |
| NC_000003.10:g.149929072A>T | NCBI36 |
| NG_008468.1:g.35725A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000349243.8:c.-47-12394A>T MANE Select | ENSP00000273430.3:n.-47-12394A>T | |
| ENST00000418473.7:c.-105-1585A>T | ENSP00000398832.4:n.-105-1585A>T | |
| ENST00000349243.7:c.-47-12394A>T | ENSP00000273430.3:n.-47-12394A>T | |
| ENST00000404754.2:c.-47-12394A>T | ENSP00000385612.2:n.-47-12394A>T | |
| ENST00000475166.5:n.217-1585A>T | ||
| ENST00000497524.5:c.-47-12394A>T | ENSP00000419422.1:n.-47-12394A>T | |
| NM_000685.4:c.-47-12394A>T | NP_000676.1:n.-47-12394A>T | |
| NM_004835.4:c.1-1585A>T | NP_004826.5:n.1-1585A>T | |
| NM_009585.3:c.-47-12394A>T | NP_033611.1:n.-47-12394A>T | |
| NM_031850.3:c.1-1585A>T | NP_114038.4:n.1-1585A>T | |
| NM_000685.5:c.-47-12394A>T MANE Select | NP_000676.1:n.-47-12394A>T | |
| NM_001382736.1:c.-47-12394A>T | NP_001369665.1:n.-47-12394A>T | |
| NM_001382737.1:c.-47-12394A>T | NP_001369666.1:n.-47-12394A>T | |
| NM_004835.5:c.-105-1585A>T | NP_004826.6:n.-105-1585A>T | |
| NM_009585.4:c.-47-12394A>T | NP_033611.1:n.-47-12394A>T | |
| NM_031850.4:c.-105-1585A>T | NP_114038.5:n.-105-1585A>T | |
| NM_032049.4:c.-262-1585A>T | NP_114438.3:n.-262-1585A>T |