Linked Data
ClinVar Variation Id:
2416340
ClinVar RCV Id:
RCV003107089
dbSNP Id:
rs1762502939
gnomAD v4:
6-31861372-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31861372C>T , CM000668.2:g.31861372C>T | GRCh38 |
| NC_000006.11:g.31829149C>T , CM000668.1:g.31829149C>T | GRCh37 |
| NC_000006.10:g.31937128C>T | NCBI36 |
| NG_008201.1:g.6561G>A | |
| NG_023058.1:g.22675G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375631.5:c.431G>A MANE Select | ENSP00000364782.4:p.Ser144Asn | |
| ENST00000677054.1:n.1108G>A | ||
| ENST00000677512.1:n.539G>A | ||
| ENST00000678869.1:n.539G>A | ||
| ENST00000375631.4:c.431G>A | ENSP00000364782.4:p.Ser144Asn | |
| ENST00000480384.1:n.460G>A | ||
| ENST00000491768.5:c.431G>A | ENSP00000433127.1:p.Ser144Asn | |
| ENST00000495807.1:n.999G>A | ||
| NM_000434.3:c.431G>A | NP_000425.1:p.Ser144Asn | |
| NM_000434.4:c.431G>A MANE Select | NP_000425.1:p.Ser144Asn |