Linked Data
ClinVar Variation Id:
137920
dbSNP Id:
rs71530911
ExAC:
4:6303727 C / T
gnomAD v2:
4-6303727-C-T
gnomAD v3:
4-6302000-C-T
gnomAD v4:
4-6302000-C-T
COSMIC:
COSM1430504
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6302000C>T , CM000666.2:g.6302000C>T | GRCh38 |
| NC_000004.11:g.6303727C>T , CM000666.1:g.6303727C>T | GRCh37 |
| NC_000004.10:g.6354628C>T | NCBI36 |
| NG_011700.1:g.37151C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682275.1:c.2241C>T | ENSP00000507852.1:p.Tyr747= | |
| ENST00000683395.1:c.2182C>T | ||
| ENST00000684087.1:c.2205C>T | ENSP00000506978.1:p.Tyr735= | |
| ENST00000506362.2:c.1956C>T | ENSP00000424103.2:p.Tyr652= | |
| ENST00000673642.1:c.1864C>T | ENSP00000501242.1:n.1864C>T | |
| ENST00000673991.1:c.2241C>T | ENSP00000501033.1:p.Tyr747= | |
| ENST00000226760.5:c.2205C>T MANE Select | ENSP00000226760.1:p.Tyr735= | |
| ENST00000503569.5:c.2205C>T | ENSP00000423337.1:p.Tyr735= | |
| ENST00000507765.1:n.2390C>T | ||
| NM_001145853.1:c.2205C>T | NP_001139325.1:p.Tyr735= | |
| NM_006005.3:c.2205C>T MANE Select | NP_005996.2:p.Tyr735= | |
| XM_017008586.1:c.2214C>T | XP_016864075.1:p.Tyr738= |