Linked Data
dbSNP Id:
rs779929728
ExAC:
11:67352220 T / G
gnomAD v2:
11-67352220-T-G
gnomAD v4:
11-67584749-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67584749T>G , CM000673.2:g.67584749T>G | GRCh38 |
| NC_000011.9:g.67352220T>G , CM000673.1:g.67352220T>G | GRCh37 |
| NC_000011.8:g.67108796T>G | NCBI36 |
| NG_012075.1:g.6155T>G , LRG_723:g.6155T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.209T>G | ENSP00000381604.1:p.Leu70Arg | |
| ENST00000398606.10:c.209T>G MANE Select | ENSP00000381607.3:p.Leu70Arg | |
| ENST00000646888.1:c.102T>G | ENSP00000494477.1:p.Pro34= | |
| ENST00000398603.5:c.209T>G | ENSP00000381604.1:p.Leu70Arg | |
| ENST00000398606.7:c.209T>G | ENSP00000381607.3:p.Leu70Arg | |
| ENST00000489040.1:n.208T>G | ||
| ENST00000494593.1:n.639T>G | ||
| ENST00000498765.5:c.172T>G | ||
| NM_000852.3:c.209T>G , LRG_723t1:c.209T>G | NP_000843.1:p.Leu70Arg | |
| NM_000852.4:c.209T>G MANE Select | NP_000843.1:p.Leu70Arg |