Linked Data
dbSNP Id:
rs2098032680
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152660654C>A , CM000669.2:g.152660654C>A | GRCh38 |
| NC_000007.13:g.152357739C>A , CM000669.1:g.152357739C>A | GRCh37 |
| NC_000007.12:g.151988672C>A | NCBI36 |
| NG_027988.1:g.20512G>T | |
| NG_027988.2:g.20512G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698506.1:c.-47-11291G>T | ENSP00000513758.1:n.-47-11291G>T | |
| ENST00000698507.1:n.236G>T | ||
| ENST00000359321.2:c.121+47G>T MANE Select | ENSP00000352271.1:n.121+47G>T | |
| ENST00000359321.1:c.121+47G>T | ENSP00000352271.1:n.121+47G>T | |
| ENST00000495707.1:n.143+47G>T | ||
| NM_005431.1:c.121+47G>T | NP_005422.1:n.121+47G>T | |
| NM_005431.2:c.121+47G>T MANE Select | NP_005422.1:n.121+47G>T |