Linked Data
ClinVar Variation Id:
221
ClinVar RCV Id:
RCV000000245
dbSNP Id:
rs121964906
gnomAD v2:
4-178354392-A-G
gnomAD v4:
4-177433238-A-G
PubMed:
PMID:1722323
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177433238A>G , CM000666.2:g.177433238A>G | GRCh38 |
| NC_000004.11:g.178354392A>G , CM000666.1:g.178354392A>G | GRCh37 |
| NC_000004.10:g.178591386A>G | NCBI36 |
| NG_011845.2:g.14266T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264595.7:c.916T>C MANE Select | ENSP00000264595.2:p.Cys306Arg | |
| ENST00000264595.6:c.916T>C | ENSP00000264595.2:p.Cys306Arg | |
| NM_000027.3:c.916T>C | NP_000018.2:p.Cys306Arg | |
| NM_001171988.1:c.886T>C | NP_001165459.1:p.Cys296Arg | |
| NR_033655.1:n.968T>C | ||
| XR_001741155.2:n.988T>C | ||
| NM_000027.4:c.916T>C MANE Select | NP_000018.2:p.Cys306Arg | |
| NM_001171988.2:c.886T>C | NP_001165459.1:p.Cys296Arg | |
| NR_033655.2:n.902T>C |