Linked Data
ClinVar Variation Id:
138760
ClinVar RCV Id:
RCV000127539
RCV000316461
RCV000559092
RCV000726414
RCV000768049
RCV001847754
RCV003441747
dbSNP Id:
rs55779802
ExAC:
15:89861766 G / A
gnomAD v2:
15-89861766-G-A
gnomAD v3:
15-89318535-G-A
gnomAD v4:
15-89318535-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89318535G>A , CM000677.2:g.89318535G>A | GRCh38 |
| NC_000015.9:g.89861766G>A , CM000677.1:g.89861766G>A | GRCh37 |
| NC_000015.8:g.87662770G>A | NCBI36 |
| NG_008218.1:g.21261C>T | |
| NG_011736.1:g.79573G>A , LRG_500:g.79573G>A | |
| NG_008218.2:g.21261C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.3482+6C>T | ENSP00000516154.1:n.3482+6C>T | |
| ENST00000268124.11:c.3482+6C>T MANE Select | ENSP00000268124.5:n.3482+6C>T | |
| ENST00000530292.3:c.3083+6C>T | ENSP00000432885.2:n.3083+6C>T | |
| ENST00000635986.2:c.*552+6C>T | ENSP00000490653.2:n.*552+6C>T | |
| ENST00000636774.1:c.*2049+6C>T | ENSP00000489799.1:n.*2049+6C>T | |
| ENST00000637238.1:c.2291+6C>T | ENSP00000490756.1:n.2291+6C>T | |
| ENST00000637264.1:c.2554+6C>T | ||
| ENST00000666746.1:c.3059+6C>T | ||
| ENST00000672071.1:n.3686C>T | ||
| ENST00000672695.1:n.665C>T | ||
| ENST00000672923.2:n.3482+6C>T | ||
| ENST00000268124.9:c.3482+6C>T | ENSP00000268124.5:n.3482+6C>T | |
| ENST00000442287.6:c.3482+6C>T | ENSP00000399851.2:n.3482+6C>T | |
| ENST00000530292.2:c.566+6C>T | ENSP00000432885.1:n.566+6C>T | |
| ENST00000631044.2:c.*2906+6C>T | ENSP00000486730.1:n.*2906+6C>T | |
| NM_001126131.1:c.3482+6C>T | NP_001119603.1:n.3482+6C>T | |
| NM_002693.2:c.3482+6C>T | NP_002684.1:n.3482+6C>T | |
| NM_001126131.2:c.3482+6C>T | NP_001119603.1:n.3482+6C>T | |
| NM_002693.3:c.3482+6C>T MANE Select | NP_002684.1:n.3482+6C>T |