Linked Data
dbSNP Id:
rs1232510991
gnomAD v2:
14-96671176-A-G
gnomAD v3:
14-96204839-A-G
gnomAD v4:
14-96204839-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.96204839A>G , CM000676.2:g.96204839A>G | GRCh38 |
| NC_000014.8:g.96671176A>G , CM000676.1:g.96671176A>G | GRCh37 |
| NC_000014.7:g.95740929A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554311.2:c.-160A>G MANE Select | ENSP00000450482.1:n.-160A>G | |
| ENST00000539359.1:c.-402A>G | ENSP00000438376.1:n.-402A>G | |
| ENST00000542454.2:c.-2928A>G | ENSP00000439459.2:n.-2928A>G | |
| ENST00000554311.1:c.-160A>G | ENSP00000450482.1:n.-160A>G | |
| NM_000623.3:c.-155A>G | NP_000614.1:n.-155A>G | |
| NM_000623.4:c.-155A>G | NP_000614.1:n.-155A>G | |
| NM_001379692.1:c.-160A>G MANE Select | NP_001366621.1:n.-160A>G |