Linked Data
ClinVar Variation Id:
2076168
ClinVar RCV Id:
RCV002979141
dbSNP Id:
rs878856172
gnomAD v3:
11-119278268-A-C
gnomAD v4:
11-119278268-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119278268A>C , CM000673.2:g.119278268A>C | GRCh38 |
| NC_000011.9:g.119148978A>C , CM000673.1:g.119148978A>C | GRCh37 |
| NC_000011.8:g.118654188A>C | NCBI36 |
| NG_016808.1:g.76989A>C , LRG_608:g.76989A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700472.1:c.*650A>C | ENSP00000515005.1:n.*650A>C | |
| ENST00000264033.6:c.1198A>C MANE Select | ENSP00000264033.3:p.Met400Leu | |
| ENST00000637974.1:c.1192A>C | ENSP00000490763.1:p.Met398Leu | |
| ENST00000264033.5:c.1198A>C | ENSP00000264033.3:p.Met400Leu | |
| ENST00000634586.1:c.1198A>C | ENSP00000489218.1:p.Met400Leu | |
| ENST00000634840.1:c.1198A>C | ENSP00000489324.1:p.Met400Leu | |
| NM_005188.3:c.1198A>C , LRG_608t1:c.1198A>C | NP_005179.2:p.Met400Leu | |
| XM_011543057.1:c.1198A>C | XP_011541359.1:p.Met400Leu | |
| NM_005188.4:c.1198A>C MANE Select | NP_005179.2:p.Met400Leu |