Linked Data
ClinVar Variation Id:
529743
ClinVar RCV Id:
RCV000635205
dbSNP Id:
rs183416252
ExAC:
1:173880967 A / G
gnomAD v2:
1-173880967-A-G
gnomAD v3:
1-173911829-A-G
gnomAD v4:
1-173911829-A-G
COSMIC:
COSM677069
ERepo:
CA1251397/MONDO:0013144/084
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173911829A>G , CM000663.2:g.173911829A>G | GRCh38 |
| NC_000001.10:g.173880967A>G , CM000663.1:g.173880967A>G | GRCh37 |
| NC_000001.9:g.172147590A>G | NCBI36 |
| NG_012462.1:g.10550T>C , LRG_577:g.10550T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.594T>C MANE Select | ENSP00000356671.3:p.Tyr198= | |
| ENST00000367698.3:c.594T>C | ENSP00000356671.3:p.Tyr198= | |
| ENST00000487183.1:n.299T>C | ||
| ENST00000617423.4:c.559+35T>C | ENSP00000478688.1:n.559+35T>C | |
| NM_000488.3:c.594T>C , LRG_577t1:c.594T>C | NP_000479.1:p.Tyr198= | |
| XM_005245198.2:c.450T>C | XP_005245255.1:p.Tyr150= | |
| NM_001365052.1:c.450T>C | NP_001351981.1:p.Tyr150= | |
| NM_000488.4:c.594T>C MANE Select | NP_000479.1:p.Tyr198= | |
| NM_001365052.2:c.450T>C | NP_001351981.1:p.Tyr150= | |
| NM_001386302.1:c.594T>C | NP_001373231.1:p.Tyr198= | |
| NM_001386303.1:c.675T>C | NP_001373232.1:p.Tyr225= | |
| NM_001386304.1:c.594T>C | NP_001373233.1:p.Tyr198= | |
| NM_001386305.1:c.594T>C | NP_001373234.1:p.Tyr198= | |
| NM_001386306.1:c.409-938T>C | NP_001373235.1:n.409-938T>C |