Linked Data
dbSNP Id:
rs369303483
gnomAD v3:
1-119421918-C-A
gnomAD v4:
1-119421918-C-A
COSMIC:
COSM6120865
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119421918C>A , CM000663.2:g.119421918C>A | GRCh38 |
| NC_000001.10:g.119964541C>A , CM000663.1:g.119964541C>A | GRCh37 |
| NC_000001.9:g.119766064C>A | NCBI36 |
| NG_013349.1:g.11988C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369416.4:c.417C>A MANE Select | ENSP00000358424.3:p.Asn139Lys | |
| ENST00000369416.3:c.417C>A | ENSP00000358424.3:p.Asn139Lys | |
| ENST00000433745.5:c.417C>A | ENSP00000388292.1:p.Asn139Lys | |
| ENST00000448448.2:n.361C>A | ||
| ENST00000543831.5:c.417C>A | ENSP00000445122.1:p.Asn139Lys | |
| NM_000198.3:c.417C>A | NP_000189.1:p.Asn139Lys | |
| NM_001166120.1:c.417C>A | NP_001159592.1:p.Asn139Lys | |
| NM_000198.4:c.417C>A MANE Select | NP_000189.1:p.Asn139Lys | |
| NM_001166120.2:c.417C>A | NP_001159592.1:p.Asn139Lys |