Linked Data
dbSNP Id:
rs761103083
ExAC:
7:152357743 T / C
gnomAD v2:
7-152357743-T-C
gnomAD v3:
7-152660658-T-C
gnomAD v4:
7-152660658-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152660658T>C , CM000669.2:g.152660658T>C | GRCh38 |
| NC_000007.13:g.152357743T>C , CM000669.1:g.152357743T>C | GRCh37 |
| NC_000007.12:g.151988676T>C | NCBI36 |
| NG_027988.1:g.20508A>G | |
| NG_027988.2:g.20508A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698506.1:c.-47-11295A>G | ENSP00000513758.1:n.-47-11295A>G | |
| ENST00000698507.1:n.232A>G | ||
| ENST00000359321.2:c.121+43A>G MANE Select | ENSP00000352271.1:n.121+43A>G | |
| ENST00000359321.1:c.121+43A>G | ENSP00000352271.1:n.121+43A>G | |
| ENST00000495707.1:n.143+43A>G | ||
| NM_005431.1:c.121+43A>G | NP_005422.1:n.121+43A>G | |
| NM_005431.2:c.121+43A>G MANE Select | NP_005422.1:n.121+43A>G |