Linked Data
ClinVar Variation Id:
2852401
ClinVar RCV Id:
RCV003693562
dbSNP Id:
rs1459384478
gnomAD v2:
6-33132236-G-A
gnomAD v4:
6-33164459-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33164459G>A , CM000668.2:g.33164459G>A | GRCh38 |
| NC_000006.11:g.33132236G>A , CM000668.1:g.33132236G>A | GRCh37 |
| NC_000006.10:g.33240214G>A | NCBI36 |
| NG_011589.1:g.33010C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.684C>T | ||
| ENST00000341947.7:c.4878C>T MANE Select | ENSP00000339915.2:p.Asp1626= | |
| ENST00000341947.6:c.4878C>T | ENSP00000339915.2:p.Asp1626= | |
| ENST00000361917.5:c.4557C>T | ENSP00000355123.1:p.Asp1519= | |
| ENST00000374708.8:c.4620C>T | ENSP00000363840.4:p.Asp1540= | |
| ENST00000477772.1:n.668C>T | ||
| NM_080679.2:c.4557C>T | NP_542410.2:p.Asp1519= | |
| NM_080680.2:c.4878C>T | NP_542411.2:p.Asp1626= | |
| NM_080681.2:c.4620C>T | NP_542412.2:p.Asp1540= | |
| XM_011514298.1:c.4032C>T | XP_011512600.1:p.Asp1344= | |
| XM_011514299.1:c.4164C>T | XP_011512601.1:p.Asp1388= | |
| XM_011514300.1:c.3984C>T | XP_011512602.1:p.Asp1328= | |
| XM_011514301.1:c.3921C>T | XP_011512603.1:p.Asp1307= | |
| XM_011514302.1:c.3765C>T | XP_011512604.1:p.Asp1255= | |
| XM_011514299.2:c.4164C>T | XP_011512601.1:p.Asp1388= | |
| XM_011514300.2:c.3984C>T | XP_011512602.1:p.Asp1328= | |
| XM_011514302.2:c.3765C>T | XP_011512604.1:p.Asp1255= | |
| XM_017010250.1:c.4878C>T | XP_016865739.1:p.Asp1626= | |
| XM_017010251.2:c.3696C>T | XP_016865740.1:p.Asp1232= | |
| NM_080680.3:c.4878C>T MANE Select | NP_542411.2:p.Asp1626= | |
| NM_080681.3:c.4620C>T | NP_542412.2:p.Asp1540= | |
| NM_080679.3:c.4557C>T | NP_542410.2:p.Asp1519= |