Linked Data
ClinVar Variation Id:
287845
dbSNP Id:
rs141177727
ExAC:
4:6302497 C / T
gnomAD v2:
4-6302497-C-T
gnomAD v3:
4-6300770-C-T
gnomAD v4:
4-6300770-C-T
COSMIC:
COSM1056542
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6300770C>T , CM000666.2:g.6300770C>T | GRCh38 |
| NC_000004.11:g.6302497C>T , CM000666.1:g.6302497C>T | GRCh37 |
| NC_000004.10:g.6353398C>T | NCBI36 |
| NG_011700.1:g.35921C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1011C>T | ENSP00000507852.1:p.Asn337= | |
| ENST00000683395.1:c.952C>T | ||
| ENST00000684087.1:c.975C>T | ENSP00000506978.1:p.Asn325= | |
| ENST00000506362.2:c.726C>T | ENSP00000424103.2:p.Asn242= | |
| ENST00000673642.1:c.661-27C>T | ENSP00000501242.1:n.661-27C>T | |
| ENST00000673991.1:c.1011C>T | ENSP00000501033.1:p.Asn337= | |
| ENST00000226760.5:c.975C>T MANE Select | ENSP00000226760.1:p.Asn325= | |
| ENST00000503569.5:c.975C>T | ENSP00000423337.1:p.Asn325= | |
| ENST00000506362.1:c.608C>T | ||
| ENST00000507765.1:n.1160C>T | ||
| ENST00000513395.1:n.533C>T | ||
| NM_001145853.1:c.975C>T | NP_001139325.1:p.Asn325= | |
| NM_006005.3:c.975C>T MANE Select | NP_005996.2:p.Asn325= | |
| XM_017008586.1:c.984C>T | XP_016864075.1:p.Asn328= |