Linked Data
ClinVar Variation Id:
44910
ClinVar RCV Id:
RCV000038045
RCV000202877
RCV000619831
RCV000770246
RCV000845533
RCV000852995
RCV001080732
RCV003952433
dbSNP Id:
rs148041814
ExAC:
6:7580912 C / T
gnomAD v2:
6-7580912-C-T
gnomAD v3:
6-7580679-C-T
gnomAD v4:
6-7580679-C-T
COSMIC:
COSM1580819
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7580679C>T , CM000668.2:g.7580679C>T | GRCh38 |
| NC_000006.11:g.7580912C>T , CM000668.1:g.7580912C>T | GRCh37 |
| NC_000006.10:g.7525911C>T | NCBI36 |
| NG_008803.1:g.44043C>T , LRG_423:g.44043C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.4050+439C>T | ENSP00000518230.1:n.4050+439C>T | |
| ENST00000379802.8:c.4489C>T MANE Select | ENSP00000369129.3:p.Arg1497Trp | |
| ENST00000379802.7:c.4489C>T | ENSP00000369129.3:p.Arg1497Trp | |
| ENST00000418664.2:c.3582+907C>T | ENSP00000396591.2:n.3582+907C>T | |
| NM_001008844.1:c.3582+907C>T | NP_001008844.1:n.3582+907C>T | |
| NM_004415.2:c.4489C>T , LRG_423t1:c.4489C>T | NP_004406.2:p.Arg1497Trp | |
| XM_011514323.1:c.4050+439C>T | XP_011512625.1:n.4050+439C>T | |
| NM_001008844.2:c.3582+907C>T | NP_001008844.1:n.3582+907C>T | |
| NM_001319034.1:c.4050+439C>T | NP_001305963.1:n.4050+439C>T | |
| NM_004415.3:c.4489C>T | NP_004406.2:p.Arg1497Trp | |
| NM_004415.4:c.4489C>T MANE Select | NP_004406.2:p.Arg1497Trp | |
| NM_001008844.3:c.3582+907C>T | NP_001008844.1:n.3582+907C>T | |
| NM_001319034.2:c.4050+439C>T | NP_001305963.1:n.4050+439C>T |