Linked Data
ClinVar Variation Id:
390
ClinVar RCV Id:
RCV000000421
dbSNP Id:
rs137852797
gnomAD v2:
5-150646460-T-C
gnomAD v3:
5-151266899-T-C
gnomAD v4:
5-151266899-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151266899T>C , CM000667.2:g.151266899T>C | GRCh38 |
| NC_000005.9:g.150646460T>C , CM000667.1:g.150646460T>C | GRCh37 |
| NC_000005.8:g.150626653T>C | NCBI36 |
| NG_009059.1:g.18848T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357164.4:c.412T>C MANE Select | ENSP00000349687.3:p.Cys138Arg | |
| ENST00000357164.3:c.412T>C | ENSP00000349687.3:p.Cys138Arg | |
| ENST00000523004.1:c.287T>C | ||
| NM_000405.4:c.412T>C | NP_000396.2:p.Cys138Arg | |
| NM_001167607.1:c.412T>C | NP_001161079.1:p.Cys138Arg | |
| NM_000405.5:c.412T>C MANE Select | NP_000396.2:p.Cys138Arg | |
| NM_001167607.2:c.412T>C | NP_001161079.1:p.Cys138Arg | |
| NM_001167607.3:c.412T>C | NP_001161079.1:p.Cys138Arg |