Linked Data
dbSNP Id:
rs750762896
ExAC:
7:152357738 C / A
gnomAD v2:
7-152357738-C-A
gnomAD v4:
7-152660653-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152660653C>A , CM000669.2:g.152660653C>A | GRCh38 |
| NC_000007.13:g.152357738C>A , CM000669.1:g.152357738C>A | GRCh37 |
| NC_000007.12:g.151988671C>A | NCBI36 |
| NG_027988.1:g.20513G>T | |
| NG_027988.2:g.20513G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698506.1:c.-47-11290G>T | ENSP00000513758.1:n.-47-11290G>T | |
| ENST00000698507.1:n.237G>T | ||
| ENST00000359321.2:c.121+48G>T MANE Select | ENSP00000352271.1:n.121+48G>T | |
| ENST00000359321.1:c.121+48G>T | ENSP00000352271.1:n.121+48G>T | |
| ENST00000495707.1:n.143+48G>T | ||
| NM_005431.1:c.121+48G>T | NP_005422.1:n.121+48G>T | |
| NM_005431.2:c.121+48G>T MANE Select | NP_005422.1:n.121+48G>T |