Linked Data
ClinVar Variation Id:
466323
dbSNP Id:
rs33943110
ExAC:
6:24357796 G / A
gnomAD v2:
6-24357796-G-A
gnomAD v3:
6-24357568-G-A
gnomAD v4:
6-24357568-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24357568G>A , CM000668.2:g.24357568G>A | GRCh38 |
| NC_000006.11:g.24357796G>A , CM000668.1:g.24357796G>A | GRCh37 |
| NC_000006.10:g.24465775G>A | NCBI36 |
| NG_012829.1:g.5485C>T | |
| NG_012829.2:g.30725C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274766.2:c.-72G>A (KAAG1) | ENSP00000274766.1:n.-72G>A | |
| ENST00000378454.8:c.183C>T (DCDC2) MANE Select | ENSP00000367715.3:p.Ala61= | |
| ENST00000274766.1:c.-72G>A (KAAG1) | ENSP00000274766.1:n.-72G>A | |
| ENST00000378454.7:c.183C>T (DCDC2) | ENSP00000367715.3:p.Ala61= | |
| ENST00000436313.1:c.86C>T (DCDC2) | ||
| NM_001195610.1:c.183C>T (DCDC2) | NP_001182539.1:p.Ala61= | |
| NM_016356.4:c.183C>T (DCDC2) | NP_057440.2:p.Ala61= | |
| NM_181337.3:c.-72G>A (KAAG1) | NP_851854.1:n.-72G>A | |
| NM_016356.5:c.183C>T (DCDC2) MANE Select | NP_057440.2:p.Ala61= | |
| NM_181337.4:c.-72G>A (KAAG1) | NP_851854.1:n.-72G>A | |
| NM_001195610.2:c.183C>T (DCDC2) | NP_001182539.1:p.Ala61= | |
| NR_174942.1:n.666G>A (KAAG1) |