Linked Data
ClinVar Variation Id:
2172814
dbSNP Id:
rs944367128
gnomAD v2:
6-33132705-C-T
gnomAD v4:
6-33164928-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33164928C>T , CM000668.2:g.33164928C>T | GRCh38 |
| NC_000006.11:g.33132705C>T , CM000668.1:g.33132705C>T | GRCh37 |
| NC_000006.10:g.33240683C>T | NCBI36 |
| NG_011589.1:g.32541G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.593G>A | ||
| ENST00000341947.7:c.4787G>A MANE Select | ENSP00000339915.2:p.Arg1596Gln | |
| ENST00000341947.6:c.4787G>A | ENSP00000339915.2:p.Arg1596Gln | |
| ENST00000361917.5:c.4466G>A | ENSP00000355123.1:p.Arg1489Gln | |
| ENST00000374708.8:c.4529G>A | ENSP00000363840.4:p.Arg1510Gln | |
| ENST00000477772.1:n.577G>A | ||
| NM_080679.2:c.4466G>A | NP_542410.2:p.Arg1489Gln | |
| NM_080680.2:c.4787G>A | NP_542411.2:p.Arg1596Gln | |
| NM_080681.2:c.4529G>A | NP_542412.2:p.Arg1510Gln | |
| XM_011514298.1:c.3941G>A | XP_011512600.1:p.Arg1314Gln | |
| XM_011514299.1:c.4073G>A | XP_011512601.1:p.Arg1358Gln | |
| XM_011514300.1:c.3893G>A | XP_011512602.1:p.Arg1298Gln | |
| XM_011514301.1:c.3830G>A | XP_011512603.1:p.Arg1277Gln | |
| XM_011514302.1:c.3674G>A | XP_011512604.1:p.Arg1225Gln | |
| XM_011514299.2:c.4073G>A | XP_011512601.1:p.Arg1358Gln | |
| XM_011514300.2:c.3893G>A | XP_011512602.1:p.Arg1298Gln | |
| XM_011514302.2:c.3674G>A | XP_011512604.1:p.Arg1225Gln | |
| XM_017010250.1:c.4787G>A | XP_016865739.1:p.Arg1596Gln | |
| XM_017010251.2:c.3605G>A | XP_016865740.1:p.Arg1202Gln | |
| NM_080680.3:c.4787G>A MANE Select | NP_542411.2:p.Arg1596Gln | |
| NM_080681.3:c.4529G>A | NP_542412.2:p.Arg1510Gln | |
| NM_080679.3:c.4466G>A | NP_542410.2:p.Arg1489Gln |