Linked Data
ClinVar Variation Id:
1027730
ClinVar RCV Id:
RCV001328599
dbSNP Id:
rs372469431
ExAC:
8:37623081 G / A
gnomAD v2:
8-37623081-G-A
gnomAD v3:
8-37765563-G-A
gnomAD v4:
8-37765563-G-A
COSMIC:
COSM145820
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37765563G>A , CM000670.2:g.37765563G>A | GRCh38 |
| NC_000008.10:g.37623081G>A , CM000670.1:g.37623081G>A | GRCh37 |
| NC_000008.9:g.37742239G>A | NCBI36 |
| NG_053030.1:g.8811G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328195.8:c.137G>A MANE Select | ENSP00000333551.3:p.Ser46Asn | |
| ENST00000328195.7:c.137G>A | ENSP00000333551.3:p.Ser46Asn | |
| ENST00000518036.5:c.137G>A | ENSP00000428005.1:p.Ser46Asn | |
| ENST00000520073.5:n.202G>A | ||
| ENST00000523187.5:c.-20G>A | ENSP00000427886.1:n.-20G>A | |
| ENST00000523358.5:c.137G>A | ENSP00000427778.1:p.Ser46Asn | |
| ENST00000523994.1:n.142G>A | ||
| NM_007198.3:c.137G>A | NP_009129.1:p.Ser46Asn | |
| NM_001349346.1:c.137G>A | NP_001336275.1:p.Ser46Asn | |
| NM_001349347.1:c.137G>A | NP_001336276.1:p.Ser46Asn | |
| NM_001349348.1:c.-20G>A | NP_001336277.1:n.-20G>A | |
| NM_001349349.1:c.242G>A | NP_001336278.1:p.Ser81Asn | |
| NM_007198.4:c.137G>A MANE Select | NP_009129.1:p.Ser46Asn | |
| NM_001349346.2:c.137G>A | NP_001336275.1:p.Ser46Asn | |
| NM_001349347.2:c.137G>A | NP_001336276.1:p.Ser46Asn | |
| NM_001349348.2:c.-20G>A | NP_001336277.1:n.-20G>A |