Linked Data
ClinVar Variation Id:
5442
ClinVar RCV Id:
RCV000005775
dbSNP Id:
rs74315378
gnomAD v4:
1-168291213-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.168291213T>G , CM000663.2:g.168291213T>G | GRCh38 |
| NC_000001.10:g.168260451T>G , CM000663.1:g.168260451T>G | GRCh37 |
| NC_000001.9:g.166527075T>G | NCBI36 |
| NG_008244.1:g.15174T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367821.8:c.257T>G MANE Select | ENSP00000356795.3:p.Met86Arg | |
| ENST00000367821.7:c.257T>G | ENSP00000356795.3:p.Met86Arg | |
| ENST00000431969.5:c.54T>G | ||
| NM_005149.2:c.257T>G | NP_005140.1:p.Met86Arg | |
| NM_005149.3:c.257T>G MANE Select | NP_005140.1:p.Met86Arg |