Linked Data
ClinVar Variation Id:
2775300
dbSNP Id:
rs767643821
gnomAD v2:
6-7580228-C-G
gnomAD v4:
6-7579995-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7579995C>G , CM000668.2:g.7579995C>G | GRCh38 |
| NC_000006.11:g.7580228C>G , CM000668.1:g.7580228C>G | GRCh37 |
| NC_000006.10:g.7525227C>G | NCBI36 |
| NG_008803.1:g.43359C>G , LRG_423:g.43359C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.3805C>G | ENSP00000518230.1:p.Arg1269Gly | |
| ENST00000379802.8:c.3805C>G MANE Select | ENSP00000369129.3:p.Arg1269Gly | |
| ENST00000379802.7:c.3805C>G | ENSP00000369129.3:p.Arg1269Gly | |
| ENST00000418664.2:c.3582+223C>G | ENSP00000396591.2:n.3582+223C>G | |
| NM_001008844.1:c.3582+223C>G | NP_001008844.1:n.3582+223C>G | |
| NM_004415.2:c.3805C>G , LRG_423t1:c.3805C>G | NP_004406.2:p.Arg1269Gly | |
| XM_011514323.1:c.3805C>G | XP_011512625.1:p.Arg1269Gly | |
| NM_001008844.2:c.3582+223C>G | NP_001008844.1:n.3582+223C>G | |
| NM_001319034.1:c.3805C>G | NP_001305963.1:p.Arg1269Gly | |
| NM_004415.3:c.3805C>G | NP_004406.2:p.Arg1269Gly | |
| NM_004415.4:c.3805C>G MANE Select | NP_004406.2:p.Arg1269Gly | |
| NM_001008844.3:c.3582+223C>G | NP_001008844.1:n.3582+223C>G | |
| NM_001319034.2:c.3805C>G | NP_001305963.1:p.Arg1269Gly |