Linked Data
dbSNP Id:
rs1400250348
gnomAD v2:
11-22646765-G-C
gnomAD v4:
11-22625219-G-C
COSMIC:
COSM6456779
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625219G>C , CM000673.2:g.22625219G>C | GRCh38 |
| NC_000011.9:g.22646765G>C , CM000673.1:g.22646765G>C | GRCh37 |
| NC_000011.8:g.22603341G>C | NCBI36 |
| NG_007425.1:g.5623C>G , LRG_527:g.5623C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.592C>G MANE Select | ENSP00000330875.3:p.Gln198Glu | |
| ENST00000327470.4:c.592C>G | ENSP00000330875.3:p.Gln198Glu | |
| NM_022725.3:c.592C>G , LRG_527t1:c.592C>G | NP_073562.1:p.Gln198Glu | |
| NM_022725.4:c.592C>G MANE Select | NP_073562.1:p.Gln198Glu |