Linked Data
dbSNP Id:
rs746259775
ExAC:
7:152373134 C / G
gnomAD v2:
7-152373134-C-G
gnomAD v4:
7-152676049-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152676049C>G , CM000669.2:g.152676049C>G | GRCh38 |
| NC_000007.13:g.152373134C>G , CM000669.1:g.152373134C>G | GRCh37 |
| NC_000007.12:g.152004067C>G | NCBI36 |
| NG_027988.1:g.5117G>C | |
| NG_027988.2:g.5117G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698506.1:c.-56G>C | ENSP00000513758.1:n.-56G>C | |
| ENST00000698507.1:n.99G>C | ||
| ENST00000359321.2:c.31G>C MANE Select | ENSP00000352271.1:p.Gly11Arg | |
| ENST00000359321.1:c.31G>C | ENSP00000352271.1:p.Gly11Arg | |
| NM_005431.1:c.31G>C | NP_005422.1:p.Gly11Arg | |
| NM_005431.2:c.31G>C MANE Select | NP_005422.1:p.Gly11Arg |