Linked Data
ClinVar Variation Id:
627369
dbSNP Id:
rs5969
ExAC:
4:187197520 A / G
gnomAD v2:
4-187197520-A-G
gnomAD v3:
4-186276366-A-G
gnomAD v4:
4-186276366-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186276366A>G , CM000666.2:g.186276366A>G | GRCh38 |
| NC_000004.11:g.187197520A>G , CM000666.1:g.187197520A>G | GRCh37 |
| NC_000004.10:g.187434514A>G | NCBI36 |
| NG_008051.1:g.15403A>G , LRG_583:g.15403A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.731A>G MANE Select | ENSP00000384957.2:p.Gln244Arg | |
| ENST00000264692.8:c.569A>G | ENSP00000264692.5:p.Gln190Arg | |
| ENST00000403665.6:c.731A>G | ENSP00000384957.2:p.Gln244Arg | |
| ENST00000452239.1:c.178A>G | ||
| NM_000128.3:c.731A>G , LRG_583t1:c.731A>G | NP_000119.1:p.Gln244Arg | |
| XM_005262821.2:c.731A>G | XP_005262878.1:p.Gln244Arg | |
| XM_005262822.2:c.731A>G | XP_005262879.1:p.Gln244Arg | |
| XM_005262823.2:c.485+2091A>G | XP_005262880.1:n.485+2091A>G | |
| XM_005262824.1:c.731A>G | XP_005262881.1:p.Gln244Arg | |
| XM_006714137.1:c.731A>G | XP_006714200.1:p.Gln244Arg | |
| XR_938706.1:n.1083A>G | ||
| XR_938707.1:n.1083A>G | ||
| XM_005262821.4:c.731A>G | XP_005262878.1:p.Gln244Arg | |
| XM_005262822.4:c.731A>G | XP_005262879.1:p.Gln244Arg | |
| XM_005262823.4:c.485+2091A>G | XP_005262880.1:n.485+2091A>G | |
| XM_006714137.3:c.731A>G | XP_006714200.1:p.Gln244Arg | |
| XM_017007884.2:c.731A>G | XP_016863373.1:p.Gln244Arg | |
| XM_017007885.2:c.731A>G | XP_016863374.1:p.Gln244Arg | |
| XM_017007886.2:c.731A>G | XP_016863375.1:p.Gln244Arg | |
| XR_001741172.2:n.1064A>G | ||
| NM_000128.4:c.731A>G MANE Select | NP_000119.1:p.Gln244Arg |