Linked Data
ClinVar Variation Id:
1140888
dbSNP Id:
rs1688243975
gnomAD v4:
2-188994040-C-T
MyVariant Identifiers:
chr2:g.189858766C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188994040C>T , CM000664.2:g.188994040C>T | GRCh38 |
| NC_000002.11:g.189858766C>T , CM000664.1:g.189858766C>T | GRCh37 |
| NC_000002.10:g.189567011C>T | NCBI36 |
| NG_007404.1:g.24668C>T , LRG_3:g.24668C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.1053C>T | ENSP00000415346.2:p.Gly351= | |
| ENST00000304636.9:c.1152C>T MANE Select | ENSP00000304408.4:p.Gly384= | |
| ENST00000304636.7:c.1152C>T | ENSP00000304408.3:p.Gly384= | |
| ENST00000317840.9:c.1152C>T | ENSP00000315243.6:p.Gly384= | |
| ENST00000450867.1:c.151C>T | ||
| NM_000090.3:c.1152C>T , LRG_3t1:c.1152C>T | NP_000081.1:p.Gly384= | |
| NM_000090.4:c.1152C>T MANE Select | NP_000081.2:p.Gly384= |