Linked Data
ClinVar Variation Id:
391039
dbSNP Id:
rs2307445
ExAC:
15:89861849 G / A
gnomAD v2:
15-89861849-G-A
gnomAD v3:
15-89318618-G-A
gnomAD v4:
15-89318618-G-A
ERepo:
CA7724149/MONDO:0044970/014
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89318618G>A , CM000677.2:g.89318618G>A | GRCh38 |
| NC_000015.9:g.89861849G>A , CM000677.1:g.89861849G>A | GRCh37 |
| NC_000015.8:g.87662853G>A | NCBI36 |
| NG_008218.1:g.21178C>T | |
| NG_011736.1:g.79656G>A , LRG_500:g.79656G>A | |
| NG_008218.2:g.21178C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.3405C>T | ENSP00000516154.1:p.Asp1135= | |
| ENST00000268124.11:c.3405C>T MANE Select | ENSP00000268124.5:p.Asp1135= | |
| ENST00000530292.3:c.3006C>T | ENSP00000432885.2:p.Asp1002= | |
| ENST00000635986.2:c.*475C>T | ENSP00000490653.2:n.*475C>T | |
| ENST00000636774.1:c.*1972C>T | ENSP00000489799.1:n.*1972C>T | |
| ENST00000637238.1:c.2214C>T | ENSP00000490756.1:n.2214C>T | |
| ENST00000637264.1:c.2477C>T | ||
| ENST00000666746.1:c.2982C>T | ||
| ENST00000672071.1:n.3603C>T | ||
| ENST00000672695.1:n.582C>T | ||
| ENST00000672923.2:n.3405C>T | ||
| ENST00000268124.9:c.3405C>T | ENSP00000268124.5:p.Asp1135= | |
| ENST00000442287.6:c.3405C>T | ENSP00000399851.2:p.Asp1135= | |
| ENST00000530292.2:c.489C>T | ENSP00000432885.1:p.Asp163= | |
| ENST00000631044.2:c.*2829C>T | ENSP00000486730.1:n.*2829C>T | |
| NM_001126131.1:c.3405C>T | NP_001119603.1:p.Asp1135= | |
| NM_002693.2:c.3405C>T | NP_002684.1:p.Asp1135= | |
| NM_001126131.2:c.3405C>T | NP_001119603.1:p.Asp1135= | |
| NM_002693.3:c.3405C>T MANE Select | NP_002684.1:p.Asp1135= |