Linked Data
dbSNP Id:
rs146219377
ExAC:
11:22646784 G / T
gnomAD v2:
11-22646784-G-T
gnomAD v4:
11-22625238-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625238G>T , CM000673.2:g.22625238G>T | GRCh38 |
| NC_000011.9:g.22646784G>T , CM000673.1:g.22646784G>T | GRCh37 |
| NC_000011.8:g.22603360G>T | NCBI36 |
| NG_007425.1:g.5604C>A , LRG_527:g.5604C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.573C>A MANE Select | ENSP00000330875.3:p.Ser191Arg | |
| ENST00000327470.4:c.573C>A | ENSP00000330875.3:p.Ser191Arg | |
| NM_022725.3:c.573C>A , LRG_527t1:c.573C>A | NP_073562.1:p.Ser191Arg | |
| NM_022725.4:c.573C>A MANE Select | NP_073562.1:p.Ser191Arg |