Linked Data
ClinVar Variation Id:
823964
dbSNP Id:
rs1394795091
gnomAD v2:
7-152346212-A-G
gnomAD v4:
7-152649127-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152649127A>G , CM000669.2:g.152649127A>G | GRCh38 |
| NC_000007.13:g.152346212A>G , CM000669.1:g.152346212A>G | GRCh37 |
| NC_000007.12:g.151977145A>G | NCBI36 |
| NG_027988.1:g.32039T>C | |
| NG_027988.2:g.32039T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698506.1:c.190T>C | ENSP00000513758.1:p.Cys64Arg | |
| ENST00000359321.2:c.358T>C MANE Select | ENSP00000352271.1:p.Cys120Arg | |
| ENST00000359321.1:c.358T>C | ENSP00000352271.1:p.Cys120Arg | |
| ENST00000495707.1:n.380T>C | ||
| NM_005431.1:c.358T>C | NP_005422.1:p.Cys120Arg | |
| NM_005431.2:c.358T>C MANE Select | NP_005422.1:p.Cys120Arg |