Linked Data
ClinVar Variation Id:
1103392
ClinVar RCV Id:
RCV001427094
dbSNP Id:
rs1315268272
gnomAD v2:
4-187201459-C-G
gnomAD v3:
4-186280305-C-G
gnomAD v4:
4-186280305-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186280305C>G , CM000666.2:g.186280305C>G | GRCh38 |
| NC_000004.11:g.187201459C>G , CM000666.1:g.187201459C>G | GRCh37 |
| NC_000004.10:g.187438453C>G | NCBI36 |
| NG_008051.1:g.19342C>G , LRG_583:g.19342C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.948C>G MANE Select | ENSP00000384957.2:p.Ala316= | |
| ENST00000264692.8:c.786C>G | ENSP00000264692.5:p.Ala262= | |
| ENST00000403665.6:c.948C>G | ENSP00000384957.2:p.Ala316= | |
| ENST00000452239.1:c.395C>G | ||
| NM_000128.3:c.948C>G , LRG_583t1:c.948C>G | NP_000119.1:p.Ala316= | |
| XM_005262821.2:c.948C>G | XP_005262878.1:p.Ala316= | |
| XM_005262822.2:c.948C>G | XP_005262879.1:p.Ala316= | |
| XM_005262823.2:c.678C>G | XP_005262880.1:p.Ala226= | |
| XM_005262824.1:c.948C>G | XP_005262881.1:p.Ala316= | |
| XM_006714137.1:c.900C>G | XP_006714200.1:p.Ala300= | |
| XR_938706.1:n.1300C>G | ||
| XR_938707.1:n.1300C>G | ||
| XM_005262821.4:c.948C>G | XP_005262878.1:p.Ala316= | |
| XM_005262822.4:c.948C>G | XP_005262879.1:p.Ala316= | |
| XM_005262823.4:c.678C>G | XP_005262880.1:p.Ala226= | |
| XM_006714137.3:c.900C>G | XP_006714200.1:p.Ala300= | |
| XM_017007884.2:c.948C>G | XP_016863373.1:p.Ala316= | |
| XM_017007885.2:c.948C>G | XP_016863374.1:p.Ala316= | |
| XM_017007886.2:c.948C>G | XP_016863375.1:p.Ala316= | |
| XR_001741172.2:n.1281C>G | ||
| NM_000128.4:c.948C>G MANE Select | NP_000119.1:p.Ala316= |