Linked Data
dbSNP Id:
rs564681671
gnomAD v3:
22-19918967-C-G
gnomAD v4:
22-19918967-C-G
MyVariant Identifiers:
chr22:g.19906490C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19918967C>G , CM000684.2:g.19918967C>G | GRCh38 |
| NC_000022.10:g.19906490C>G , CM000684.1:g.19906490C>G | GRCh37 |
| NC_000022.9:g.18286490C>G | NCBI36 |
| NG_011835.1:g.27870G>C , LRG_417:g.27870G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400521.7:c.267G>C MANE Select | ENSP00000383365.1:p.Val89= | |
| ENST00000334363.14:c.267G>C | ENSP00000334451.9:p.Val89= | |
| ENST00000400518.5:c.177G>C | ENSP00000383362.1:p.Val59= | |
| ENST00000400519.6:c.264G>C | ENSP00000383363.1:p.Val88= | |
| ENST00000400521.6:c.267G>C | ENSP00000383365.1:p.Val89= | |
| ENST00000400525.6:c.198G>C | ENSP00000383369.3:p.Val66= | |
| ENST00000474308.5:c.210G>C | ENSP00000485665.1:p.Val70= | |
| ENST00000491939.6:c.171G>C | ENSP00000485543.1:p.Val57= | |
| ENST00000496729.2:n.272G>C | ||
| ENST00000542719.6:c.-22G>C | ENSP00000485128.2:n.-22G>C | |
| NM_001282512.1:c.267G>C | NP_001269441.1:p.Val89= | |
| NM_006440.4:c.267G>C | NP_006431.2:p.Val89= | |
| NM_001282512.2:c.267G>C | NP_001269441.1:p.Val89= | |
| NM_001352300.1:c.264G>C | NP_001339229.1:p.Val88= | |
| NM_001352301.1:c.177G>C | NP_001339230.1:p.Val59= | |
| NM_001352302.1:c.-22G>C | NP_001339231.1:n.-22G>C | |
| NM_001352303.1:c.171G>C | NP_001339232.1:p.Val57= | |
| NR_147957.1:n.399G>C | ||
| NM_006440.5:c.267G>C MANE Select | NP_006431.2:p.Val89= | |
| NM_001282512.3:c.267G>C | NP_001269441.1:p.Val89= | |
| NM_001352300.2:c.264G>C | NP_001339229.1:p.Val88= | |
| NR_147957.2:n.225G>C | ||
| NM_001352301.2:c.177G>C | NP_001339230.1:p.Val59= | |
| NM_001352302.2:c.-22G>C | NP_001339231.1:n.-22G>C | |
| NM_001352303.2:c.171G>C | NP_001339232.1:p.Val57= |