Linked Data
dbSNP Id:
rs753745620
ExAC:
2:220285356 C / G
gnomAD v2:
2-220285356-C-G
gnomAD v4:
2-219420634-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219420634C>G , CM000664.2:g.219420634C>G | GRCh38 |
| NC_000002.11:g.220285356C>G , CM000664.1:g.220285356C>G | GRCh37 |
| NC_000002.10:g.219993600C>G | NCBI36 |
| NG_008043.1:g.7258C>G , LRG_380:g.7258C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477226.6:n.349C>G | ||
| ENST00000683013.1:n.263C>G | ||
| ENST00000373960.4:c.875C>G MANE Select | ENSP00000363071.3:p.Ala292Gly | |
| ENST00000373960.3:c.875C>G | ENSP00000363071.3:p.Ala292Gly | |
| ENST00000477226.5:n.347C>G | ||
| ENST00000492726.1:n.270C>G | ||
| NM_001927.3:c.875C>G , LRG_380t1:c.875C>G | NP_001918.3:p.Ala292Gly | |
| NM_001927.4:c.875C>G MANE Select | NP_001918.3:p.Ala292Gly | |
| NM_001382708.1:c.872C>G | NP_001369637.1:p.Ala291Gly | |
| NM_001382709.1:c.735+288C>G | NP_001369638.1:n.735+288C>G | |
| NM_001382710.1:c.875C>G | NP_001369639.1:p.Ala292Gly | |
| NM_001382711.1:c.875C>G | NP_001369640.1:p.Ala292Gly | |
| NM_001382712.1:c.875C>G | NP_001369641.1:p.Ala292Gly | |
| NM_001382713.1:c.605C>G | NP_001369642.1:p.Ala202Gly |