Linked Data
dbSNP Id:
rs768239624
gnomAD v4:
4-183289518-G-C
MyVariant Identifiers:
chr4:g.184210671G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.183289518G>C , CM000666.2:g.183289518G>C | GRCh38 |
| NC_000004.11:g.184210671G>C , CM000666.1:g.184210671G>C | GRCh37 |
| NC_000004.10:g.184447665G>C | NCBI36 |
| NG_051586.1:g.195884G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403733.8:c.3267G>C MANE Select | ENSP00000384222.3:p.Ala1089= | |
| ENST00000403733.7:c.3267G>C | ENSP00000384222.3:p.Ala1089= | |
| ENST00000427431.5:c.*2659G>C | ENSP00000393342.1:n.*2659G>C | |
| ENST00000438543.5:c.*1063G>C | ENSP00000413521.1:n.*1063G>C | |
| ENST00000448232.6:c.3339G>C | ENSP00000398577.2:p.Ala1113= | |
| ENST00000504005.5:c.2313G>C | ENSP00000427569.1:p.Ala771= | |
| ENST00000508747.1:c.651G>C | ENSP00000420835.1:p.Ala217= | |
| ENST00000513834.5:c.3120G>C | ENSP00000425054.1:p.Ala1040= | |
| NM_024949.5:c.3267G>C | NP_079225.5:p.Ala1089= | |
| XM_011532269.1:c.3339G>C | XP_011530571.1:p.Ala1113= | |
| XM_011532269.3:c.3339G>C | XP_011530571.1:p.Ala1113= | |
| XM_024454225.1:c.3045G>C | XP_024309993.1:p.Ala1015= | |
| NM_024949.6:c.3267G>C MANE Select | NP_079225.5:p.Ala1089= |