Linked Data
dbSNP Id:
rs34754577
ExAC:
4:184210599 A / C
gnomAD v2:
4-184210599-A-C
gnomAD v3:
4-183289446-A-C
gnomAD v4:
4-183289446-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.183289446A>C , CM000666.2:g.183289446A>C | GRCh38 |
| NC_000004.11:g.184210599A>C , CM000666.1:g.184210599A>C | GRCh37 |
| NC_000004.10:g.184447593A>C | NCBI36 |
| NG_051586.1:g.195812A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403733.8:c.3195A>C MANE Select | ENSP00000384222.3:p.Thr1065= | |
| ENST00000403733.7:c.3195A>C | ENSP00000384222.3:p.Thr1065= | |
| ENST00000427431.5:c.*2587A>C | ENSP00000393342.1:n.*2587A>C | |
| ENST00000438543.5:c.*991A>C | ENSP00000413521.1:n.*991A>C | |
| ENST00000448232.6:c.3267A>C | ENSP00000398577.2:p.Thr1089= | |
| ENST00000504005.5:c.2241A>C | ENSP00000427569.1:p.Thr747= | |
| ENST00000508747.1:c.579A>C | ENSP00000420835.1:p.Thr193= | |
| ENST00000513834.5:c.3048A>C | ENSP00000425054.1:p.Thr1016= | |
| NM_024949.5:c.3195A>C | NP_079225.5:p.Thr1065= | |
| XM_011532269.1:c.3267A>C | XP_011530571.1:p.Thr1089= | |
| XM_011532269.3:c.3267A>C | XP_011530571.1:p.Thr1089= | |
| XM_024454225.1:c.2973A>C | XP_024309993.1:p.Thr991= | |
| NM_024949.6:c.3195A>C MANE Select | NP_079225.5:p.Thr1065= |