Linked Data
dbSNP Id:
rs751147313
ExAC:
1:152283596 G / T
gnomAD v2:
1-152283596-G-T
gnomAD v3:
1-152311120-G-T
gnomAD v4:
1-152311120-G-T
COSMIC:
COSM462988
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152311120G>T , CM000663.2:g.152311120G>T | GRCh38 |
| NC_000001.10:g.152283596G>T , CM000663.1:g.152283596G>T | GRCh37 |
| NC_000001.9:g.150550220G>T | NCBI36 |
| NG_016190.1:g.19084C>A , LRG_1028:g.19084C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.3766C>A MANE Select | ENSP00000357789.1:p.Gln1256Lys | |
| ENST00000368799.1:c.3766C>A | ENSP00000357789.1:p.Gln1256Lys | |
| NM_002016.1:c.3766C>A , LRG_1028t1:c.3766C>A | NP_002007.1:p.Gln1256Lys | |
| XM_011509329.1:c.3766C>A | XP_011507631.1:p.Gln1256Lys | |
| NM_002016.2:c.3766C>A MANE Select | NP_002007.1:p.Gln1256Lys |