Linked Data
dbSNP Id:
rs763682296
ExAC:
11:22646543 G / C
gnomAD v2:
11-22646543-G-C
gnomAD v4:
11-22624997-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22624997G>C , CM000673.2:g.22624997G>C | GRCh38 |
| NC_000011.9:g.22646543G>C , CM000673.1:g.22646543G>C | GRCh37 |
| NC_000011.8:g.22603119G>C | NCBI36 |
| NG_007425.1:g.5845C>G , LRG_527:g.5845C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.814C>G MANE Select | ENSP00000330875.3:p.Pro272Ala | |
| ENST00000327470.4:c.814C>G | ENSP00000330875.3:p.Pro272Ala | |
| NM_022725.3:c.814C>G , LRG_527t1:c.814C>G | NP_073562.1:p.Pro272Ala | |
| NM_022725.4:c.814C>G MANE Select | NP_073562.1:p.Pro272Ala |