Linked Data
ClinVar Variation Id:
1359008
ClinVar RCV Id:
RCV001872150
dbSNP Id:
rs1015881666
gnomAD v2:
2-204820361-G-T
gnomAD v4:
2-203955638-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203955638G>T , CM000664.2:g.203955638G>T | GRCh38 |
| NC_000002.11:g.204820361G>T , CM000664.1:g.204820361G>T | GRCh37 |
| NC_000002.10:g.204528606G>T | NCBI36 |
| NG_011586.1:g.23859G>T , LRG_65:g.23859G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316386.11:c.61G>T MANE Select | ENSP00000319476.6:p.Glu21Ter | |
| ENST00000316386.10:c.61G>T | ENSP00000319476.6:p.Glu21Ter | |
| ENST00000435193.1:c.61G>T | ENSP00000415951.1:p.Glu21Ter | |
| NM_012092.3:c.61G>T , LRG_65t1:c.61G>T | NP_036224.1:p.Glu21Ter | |
| XM_011511028.1:c.61G>T | XP_011509330.1:p.Glu21Ter | |
| XM_011511029.1:c.64G>T | XP_011509331.1:p.Glu22Ter | |
| XM_011511030.1:c.-27G>T | XP_011509332.1:n.-27G>T | |
| XM_011511031.1:c.-27G>T | XP_011509333.1:n.-27G>T | |
| NM_012092.4:c.61G>T MANE Select | NP_036224.1:p.Glu21Ter |