Linked Data
dbSNP Id:
rs368746428
ExAC:
4:184210737 C / T
gnomAD v2:
4-184210737-C-T
gnomAD v3:
4-183289584-C-T
gnomAD v4:
4-183289584-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.183289584C>T , CM000666.2:g.183289584C>T | GRCh38 |
| NC_000004.11:g.184210737C>T , CM000666.1:g.184210737C>T | GRCh37 |
| NC_000004.10:g.184447731C>T | NCBI36 |
| NG_051586.1:g.195950C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403733.8:c.3333C>T MANE Select | ENSP00000384222.3:p.Gly1111= | |
| ENST00000403733.7:c.3333C>T | ENSP00000384222.3:p.Gly1111= | |
| ENST00000427431.5:c.*2725C>T | ENSP00000393342.1:n.*2725C>T | |
| ENST00000438543.5:c.*1129C>T | ENSP00000413521.1:n.*1129C>T | |
| ENST00000448232.6:c.3405C>T | ENSP00000398577.2:p.Gly1135= | |
| ENST00000504005.5:c.2379C>T | ENSP00000427569.1:p.Gly793= | |
| ENST00000508747.1:c.717C>T | ENSP00000420835.1:p.Gly239= | |
| ENST00000513834.5:c.3186C>T | ENSP00000425054.1:p.Gly1062= | |
| NM_024949.5:c.3333C>T | NP_079225.5:p.Gly1111= | |
| XM_011532269.1:c.3405C>T | XP_011530571.1:p.Gly1135= | |
| XM_011532269.3:c.3405C>T | XP_011530571.1:p.Gly1135= | |
| XM_024454225.1:c.3111C>T | XP_024309993.1:p.Gly1037= | |
| NM_024949.6:c.3333C>T MANE Select | NP_079225.5:p.Gly1111= |