Linked Data
ClinVar Variation Id:
30446
ClinVar RCV Id:
RCV000023399
dbSNP Id:
rs202080221
gnomAD v4:
12-111418767-G-T
COSMIC:
COSM1235393
PubMed:
PMID:20843259
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.111418767G>T , CM000674.2:g.111418767G>T | GRCh38 |
| NC_000012.11:g.111856571G>T , CM000674.1:g.111856571G>T | GRCh37 |
| NC_000012.10:g.110340954G>T | NCBI36 |
| NG_021216.1:g.17820G>T , LRG_621:g.17820G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341259.7:c.622G>T MANE Select | ENSP00000345492.2:p.Glu208Ter | |
| ENST00000341259.6:c.622G>T | ENSP00000345492.2:p.Glu208Ter | |
| ENST00000550925.2:c.428G>T | ||
| NM_005475.2:c.622G>T , LRG_621t1:c.622G>T | NP_005466.1:p.Glu208Ter | |
| XM_005253818.3:c.622G>T | XP_005253875.1:p.Glu208Ter | |
| XM_005253819.3:c.622G>T | XP_005253876.1:p.Glu208Ter | |
| XM_011537719.1:c.622G>T | XP_011536021.1:p.Glu208Ter | |
| XM_011537720.1:c.622G>T | XP_011536022.1:p.Glu208Ter | |
| XM_011537722.1:c.622G>T | XP_011536024.1:p.Glu208Ter | |
| XM_005253818.4:c.622G>T | XP_005253875.1:p.Glu208Ter | |
| XM_005253819.4:c.622G>T | XP_005253876.1:p.Glu208Ter | |
| XM_011537719.2:c.622G>T | XP_011536021.1:p.Glu208Ter | |
| XM_011537720.3:c.622G>T | XP_011536022.1:p.Glu208Ter | |
| XM_024448790.1:c.622G>T | XP_024304558.1:p.Glu208Ter | |
| XR_001748535.1:n.1023G>T | ||
| XR_001748536.1:n.1022G>T | ||
| XR_002957278.1:n.1019G>T | ||
| NM_005475.3:c.622G>T MANE Select | NP_005466.1:p.Glu208Ter |