Linked Data
ClinVar Variation Id:
434033
dbSNP Id:
rs201950472
ExAC:
12:8995898 G / T
gnomAD v2:
12-8995898-G-T
gnomAD v3:
12-8843302-G-T
gnomAD v4:
12-8843302-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8843302G>T , CM000674.2:g.8843302G>T | GRCh38 |
| NC_000012.11:g.8995898G>T , CM000674.1:g.8995898G>T | GRCh37 |
| NC_000012.10:g.8887165G>T | NCBI36 |
| NG_042857.1:g.25831G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299698.12:c.1417G>T MANE Select | ENSP00000299698.7:p.Asp473Tyr | |
| ENST00000299698.11:c.1417G>T | ENSP00000299698.7:p.Asp473Tyr | |
| ENST00000541459.5:c.67G>T | ENSP00000443174.1:p.Asp23Tyr | |
| NM_144670.4:c.1417G>T | NP_653271.2:p.Asp473Tyr | |
| NM_144670.5:c.1417G>T | NP_653271.2:p.Asp473Tyr | |
| XM_011520566.1:c.1417G>T | XP_011518868.1:p.Asp473Tyr | |
| XM_011520567.1:c.1417G>T | XP_011518869.1:p.Asp473Tyr | |
| XR_931275.1:n.1515G>T | ||
| XM_011520566.2:c.1417G>T | XP_011518868.1:p.Asp473Tyr | |
| XM_011520567.2:c.1417G>T | XP_011518869.1:p.Asp473Tyr | |
| XM_017018868.1:c.1417G>T | XP_016874357.1:p.Asp473Tyr | |
| XM_017018869.1:c.1417G>T | XP_016874358.1:p.Asp473Tyr | |
| XM_017018870.1:c.1417G>T | XP_016874359.1:p.Asp473Tyr | |
| XR_001748594.1:n.1515G>T | ||
| NM_144670.6:c.1417G>T MANE Select | NP_653271.3:p.Asp473Tyr |