Linked Data
ClinVar Variation Id:
1803973
ClinVar RCV Id:
RCV002468711
dbSNP Id:
rs751349850
gnomAD v2:
1-152277012-G-T
gnomAD v3:
1-152304536-G-T
gnomAD v4:
1-152304536-G-T
COSMIC:
COSM6421014
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152304536G>T , CM000663.2:g.152304536G>T | GRCh38 |
| NC_000001.10:g.152277012G>T , CM000663.1:g.152277012G>T | GRCh37 |
| NC_000001.9:g.150543636G>T | NCBI36 |
| NG_016190.1:g.25668C>A , LRG_1028:g.25668C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.10350C>A MANE Select | ENSP00000357789.1:p.Tyr3450Ter | |
| ENST00000368799.1:c.10350C>A | ENSP00000357789.1:p.Tyr3450Ter | |
| NM_002016.1:c.10350C>A , LRG_1028t1:c.10350C>A | NP_002007.1:p.Tyr3450Ter | |
| XM_011509329.1:c.9109-703C>A | XP_011507631.1:n.9109-703C>A | |
| NM_002016.2:c.10350C>A MANE Select | NP_002007.1:p.Tyr3450Ter |