Linked Data
dbSNP Id:
rs753800578
ExAC:
11:116661407 C / G
gnomAD v2:
11-116661407-C-G
gnomAD v4:
11-116790691-C-G
COSMIC:
COSM1580520
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116790691C>G , CM000673.2:g.116790691C>G | GRCh38 |
| NC_000011.9:g.116661407C>G , CM000673.1:g.116661407C>G | GRCh37 |
| NC_000011.8:g.116166617C>G | NCBI36 |
| NG_015894.1:g.6730G>C | |
| NG_015894.2:g.6730G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227665.9:c.538G>C MANE Select | ENSP00000227665.4:p.Val180Leu | |
| ENST00000433069.2:c.538G>C | ENSP00000399701.2:p.Val180Leu | |
| ENST00000673688.1:c.622G>C | ENSP00000501141.1:p.Val208Leu | |
| ENST00000227665.8:c.538G>C | ENSP00000227665.4:p.Val180Leu | |
| ENST00000542499.5:c.538G>C | ENSP00000445002.1:p.Val180Leu | |
| NM_001166598.1:c.538G>C | NP_001160070.1:p.Val180Leu | |
| NM_052968.4:c.538G>C | NP_443200.2:p.Val180Leu | |
| NM_001166598.2:c.538G>C | NP_001160070.1:p.Val180Leu | |
| NM_001371904.1:c.538G>C MANE Select | NP_001358833.1:p.Val180Leu | |
| NM_052968.5:c.538G>C | NP_443200.2:p.Val180Leu |