Linked Data
ClinVar Variation Id:
2891998
ClinVar RCV Id:
RCV003725214
dbSNP Id:
rs1561486980
MyVariant Identifiers:
chr4:g.187201661A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186280507A>G , CM000666.2:g.186280507A>G | GRCh38 |
| NC_000004.11:g.187201661A>G , CM000666.1:g.187201661A>G | GRCh37 |
| NC_000004.10:g.187438655A>G | NCBI36 |
| NG_008051.1:g.19544A>G , LRG_583:g.19544A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1062A>G MANE Select | ENSP00000384957.2:p.Gly354= | |
| ENST00000264692.8:c.900A>G | ENSP00000264692.5:p.Gly300= | |
| ENST00000403665.6:c.1062A>G | ENSP00000384957.2:p.Gly354= | |
| ENST00000452239.1:c.509A>G | ||
| NM_000128.3:c.1062A>G , LRG_583t1:c.1062A>G | NP_000119.1:p.Gly354= | |
| XM_005262821.2:c.1065A>G | XP_005262878.1:p.Gly355= | |
| XM_005262822.2:c.1065A>G | XP_005262879.1:p.Gly355= | |
| XM_005262823.2:c.795A>G | XP_005262880.1:p.Gly265= | |
| XM_005262824.1:c.1065A>G | XP_005262881.1:p.Gly355= | |
| XM_006714137.1:c.1017A>G | XP_006714200.1:p.Gly339= | |
| XR_938706.1:n.1417A>G | ||
| XR_938707.1:n.1417A>G | ||
| XM_005262821.4:c.1065A>G | XP_005262878.1:p.Gly355= | |
| XM_005262822.4:c.1065A>G | XP_005262879.1:p.Gly355= | |
| XM_005262823.4:c.795A>G | XP_005262880.1:p.Gly265= | |
| XM_006714137.3:c.1017A>G | XP_006714200.1:p.Gly339= | |
| XM_017007884.2:c.1065A>G | XP_016863373.1:p.Gly355= | |
| XM_017007885.2:c.1065A>G | XP_016863374.1:p.Gly355= | |
| XM_017007886.2:c.1062A>G | XP_016863375.1:p.Gly354= | |
| XR_001741172.2:n.1483A>G | ||
| NM_000128.4:c.1062A>G MANE Select | NP_000119.1:p.Gly354= |