Linked Data
dbSNP Id:
rs759722126
ExAC:
5:174152060 A / G
gnomAD v2:
5-174152060-A-G
gnomAD v3:
5-174725057-A-G
gnomAD v4:
5-174725057-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.174725057A>G , CM000667.2:g.174725057A>G | GRCh38 |
| NC_000005.9:g.174152060A>G , CM000667.1:g.174152060A>G | GRCh37 |
| NC_000005.8:g.174084666A>G | NCBI36 |
| NG_008124.1:g.5486A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239243.7:c.379+19A>G MANE Select | ENSP00000239243.5:n.379+19A>G | |
| ENST00000239243.6:c.379+19A>G | ENSP00000239243.5:n.379+19A>G | |
| ENST00000507785.2:c.398A>G | ENSP00000427425.1:p.Gln133Arg | |
| NM_002449.4:c.379+19A>G | NP_002440.2:n.379+19A>G | |
| NM_001363626.1:c.398A>G | NP_001350555.1:p.Gln133Arg | |
| NM_002449.5:c.379+19A>G MANE Select | NP_002440.2:n.379+19A>G | |
| NM_001363626.2:c.398A>G | NP_001350555.1:p.Gln133Arg |