Linked Data
ClinVar Variation Id:
289440
ClinVar RCV Id:
RCV000405179
dbSNP Id:
rs886044178
gnomAD v4:
6-33164948-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33164948G>A , CM000668.2:g.33164948G>A | GRCh38 |
| NC_000006.11:g.33132725G>A , CM000668.1:g.33132725G>A | GRCh37 |
| NC_000006.10:g.33240703G>A | NCBI36 |
| NG_011589.1:g.32521C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.573C>T | ||
| ENST00000341947.7:c.4767C>T MANE Select | ENSP00000339915.2:p.Asp1589= | |
| ENST00000341947.6:c.4767C>T | ENSP00000339915.2:p.Asp1589= | |
| ENST00000361917.5:c.4446C>T | ENSP00000355123.1:p.Asp1482= | |
| ENST00000374708.8:c.4509C>T | ENSP00000363840.4:p.Asp1503= | |
| ENST00000477772.1:n.557C>T | ||
| NM_080679.2:c.4446C>T | NP_542410.2:p.Asp1482= | |
| NM_080680.2:c.4767C>T | NP_542411.2:p.Asp1589= | |
| NM_080681.2:c.4509C>T | NP_542412.2:p.Asp1503= | |
| XM_011514298.1:c.3921C>T | XP_011512600.1:p.Asp1307= | |
| XM_011514299.1:c.4053C>T | XP_011512601.1:p.Asp1351= | |
| XM_011514300.1:c.3873C>T | XP_011512602.1:p.Asp1291= | |
| XM_011514301.1:c.3810C>T | XP_011512603.1:p.Asp1270= | |
| XM_011514302.1:c.3654C>T | XP_011512604.1:p.Asp1218= | |
| XM_011514299.2:c.4053C>T | XP_011512601.1:p.Asp1351= | |
| XM_011514300.2:c.3873C>T | XP_011512602.1:p.Asp1291= | |
| XM_011514302.2:c.3654C>T | XP_011512604.1:p.Asp1218= | |
| XM_017010250.1:c.4767C>T | XP_016865739.1:p.Asp1589= | |
| XM_017010251.2:c.3585C>T | XP_016865740.1:p.Asp1195= | |
| NM_080680.3:c.4767C>T MANE Select | NP_542411.2:p.Asp1589= | |
| NM_080681.3:c.4509C>T | NP_542412.2:p.Asp1503= | |
| NM_080679.3:c.4446C>T | NP_542410.2:p.Asp1482= |