Linked Data
ClinVar Variation Id:
646190
ClinVar RCV Id:
RCV000800424
dbSNP Id:
rs1590129653
gnomAD v4:
7-152649176-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152649176G>C , CM000669.2:g.152649176G>C | GRCh38 |
| NC_000007.13:g.152346261G>C , CM000669.1:g.152346261G>C | GRCh37 |
| NC_000007.12:g.151977194G>C | NCBI36 |
| NG_027988.1:g.31990C>G | |
| NG_027988.2:g.31990C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698506.1:c.141C>G | ENSP00000513758.1:p.Ser47Arg | |
| ENST00000359321.2:c.309C>G MANE Select | ENSP00000352271.1:p.Ser103Arg | |
| ENST00000359321.1:c.309C>G | ENSP00000352271.1:p.Ser103Arg | |
| ENST00000495707.1:n.331C>G | ||
| NM_005431.1:c.309C>G | NP_005422.1:p.Ser103Arg | |
| NM_005431.2:c.309C>G MANE Select | NP_005422.1:p.Ser103Arg |