Linked Data
ClinVar Variation Id:
44906
ClinVar RCV Id:
RCV000038041
RCV000148477
RCV000157197
RCV000172538
RCV000238741
RCV000368914
RCV000397854
RCV000622004
RCV000771820
RCV000845543
RCV001085365
RCV001095209
RCV003993759
RCV003904925
dbSNP Id:
rs28763965
ExAC:
6:7580795 C / G
gnomAD v2:
6-7580795-C-G
gnomAD v3:
6-7580562-C-G
gnomAD v4:
6-7580562-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7580562C>G , CM000668.2:g.7580562C>G | GRCh38 |
| NC_000006.11:g.7580795C>G , CM000668.1:g.7580795C>G | GRCh37 |
| NC_000006.10:g.7525794C>G | NCBI36 |
| NG_008803.1:g.43926C>G , LRG_423:g.43926C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.4050+322C>G | ENSP00000518230.1:n.4050+322C>G | |
| ENST00000379802.8:c.4372C>G MANE Select | ENSP00000369129.3:p.Arg1458Gly | |
| ENST00000379802.7:c.4372C>G | ENSP00000369129.3:p.Arg1458Gly | |
| ENST00000418664.2:c.3582+790C>G | ENSP00000396591.2:n.3582+790C>G | |
| NM_001008844.1:c.3582+790C>G | NP_001008844.1:n.3582+790C>G | |
| NM_004415.2:c.4372C>G , LRG_423t1:c.4372C>G | NP_004406.2:p.Arg1458Gly | |
| XM_011514323.1:c.4050+322C>G | XP_011512625.1:n.4050+322C>G | |
| NM_001008844.2:c.3582+790C>G | NP_001008844.1:n.3582+790C>G | |
| NM_001319034.1:c.4050+322C>G | NP_001305963.1:n.4050+322C>G | |
| NM_004415.3:c.4372C>G | NP_004406.2:p.Arg1458Gly | |
| NM_004415.4:c.4372C>G MANE Select | NP_004406.2:p.Arg1458Gly | |
| NM_001008844.3:c.3582+790C>G | NP_001008844.1:n.3582+790C>G | |
| NM_001319034.2:c.4050+322C>G | NP_001305963.1:n.4050+322C>G |