Linked Data
dbSNP Id:
rs141037044
ExAC:
20:60503291 C / G
gnomAD v2:
20-60503291-C-G
gnomAD v3:
20-61928233-C-G
gnomAD v4:
20-61928233-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.61928233C>G , CM000682.2:g.61928233C>G | GRCh38 |
| NC_000020.10:g.60503291C>G , CM000682.1:g.60503291C>G | GRCh37 |
| NC_000020.9:g.59936686C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614565.5:c.1815C>G MANE Select | ENSP00000484928.1:p.Leu605= | |
| ENST00000543233.2:c.1593C>G | ENSP00000443301.1:p.Leu531= | |
| ENST00000611855.4:c.1533C>G | ENSP00000480844.1:p.Leu511= | |
| ENST00000614565.4:c.1815C>G | ENSP00000484928.1:p.Leu605= | |
| NM_001252338.2:c.1704C>G | NP_001239267.1:p.Leu568= | |
| NM_001252339.2:c.1593C>G | NP_001239268.1:p.Leu531= | |
| NM_001794.4:c.1815C>G | NP_001785.2:p.Leu605= | |
| NM_001794.5:c.1815C>G MANE Select | NP_001785.2:p.Leu605= | |
| NM_001252339.3:c.1593C>G | NP_001239268.1:p.Leu531= |