Linked Data
ClinVar Variation Id:
972055
ClinVar RCV Id:
RCV001247990
dbSNP Id:
rs1762506383
gnomAD v3:
6-31861417-T-C
gnomAD v4:
6-31861417-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31861417T>C , CM000668.2:g.31861417T>C | GRCh38 |
| NC_000006.11:g.31829194T>C , CM000668.1:g.31829194T>C | GRCh37 |
| NC_000006.10:g.31937173T>C | NCBI36 |
| NG_008201.1:g.6516A>G | |
| NG_023058.1:g.22630A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375631.5:c.386A>G MANE Select | ENSP00000364782.4:p.Asn129Ser | |
| ENST00000677054.1:n.1063A>G | ||
| ENST00000677512.1:n.494A>G | ||
| ENST00000678869.1:n.494A>G | ||
| ENST00000375631.4:c.386A>G | ENSP00000364782.4:p.Asn129Ser | |
| ENST00000480384.1:n.415A>G | ||
| ENST00000491768.5:c.386A>G | ENSP00000433127.1:p.Asn129Ser | |
| ENST00000495807.1:n.954A>G | ||
| NM_000434.3:c.386A>G | NP_000425.1:p.Asn129Ser | |
| NM_000434.4:c.386A>G MANE Select | NP_000425.1:p.Asn129Ser |