Linked Data
ClinVar Variation Id:
508807
dbSNP Id:
rs1050510822
gnomAD v2:
2-220283736-C-T
gnomAD v3:
2-219419014-C-T
gnomAD v4:
2-219419014-C-T
COSMIC:
COSM4648519
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219419014C>T , CM000664.2:g.219419014C>T | GRCh38 |
| NC_000002.11:g.220283736C>T , CM000664.1:g.220283736C>T | GRCh37 |
| NC_000002.10:g.219991980C>T | NCBI36 |
| NG_008043.1:g.5638C>T , LRG_380:g.5638C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373960.4:c.552C>T MANE Select | ENSP00000363071.3:p.Leu184= | |
| ENST00000373960.3:c.552C>T | ENSP00000363071.3:p.Leu184= | |
| NM_001927.3:c.552C>T , LRG_380t1:c.552C>T | NP_001918.3:p.Leu184= | |
| NM_001927.4:c.552C>T MANE Select | NP_001918.3:p.Leu184= | |
| NM_001382708.1:c.552C>T | NP_001369637.1:p.Leu184= | |
| NM_001382709.1:c.552C>T | NP_001369638.1:p.Leu184= | |
| NM_001382710.1:c.552C>T | NP_001369639.1:p.Leu184= | |
| NM_001382711.1:c.552C>T | NP_001369640.1:p.Leu184= | |
| NM_001382712.1:c.552C>T | NP_001369641.1:p.Leu184= | |
| NM_001382713.1:c.495+57C>T | NP_001369642.1:n.495+57C>T |