Linked Data
dbSNP Id:
rs766557957
ExAC:
3:81627049 T / A
gnomAD v2:
3-81627049-T-A
gnomAD v4:
3-81577898-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81577898T>A , CM000665.2:g.81577898T>A | GRCh38 |
| NC_000003.11:g.81627049T>A , CM000665.1:g.81627049T>A | GRCh37 |
| NC_000003.10:g.81709739T>A | NCBI36 |
| NG_011810.1:g.188903A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.1618+27A>T MANE Select | ENSP00000410833.2:n.1618+27A>T | |
| ENST00000429644.6:c.1618+27A>T | ENSP00000410833.2:n.1618+27A>T | |
| ENST00000484687.1:n.19+27A>T | ||
| ENST00000489715.1:c.1495+27A>T | ENSP00000419638.1:n.1495+27A>T | |
| NM_000158.3:c.1618+27A>T | NP_000149.3:n.1618+27A>T | |
| NM_000158.4:c.1618+27A>T MANE Select | NP_000149.4:n.1618+27A>T |