Linked Data
ClinVar Variation Id:
379233
ClinVar RCV Id:
RCV000436005
dbSNP Id:
rs761259292
ExAC:
12:112884251 A / T
gnomAD v2:
12-112884251-A-T
gnomAD v3:
12-112446447-A-T
gnomAD v4:
12-112446447-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112446447A>T , CM000674.2:g.112446447A>T | GRCh38 |
| NC_000012.11:g.112884251A>T , CM000674.1:g.112884251A>T | GRCh37 |
| NC_000012.10:g.111368634A>T | NCBI36 |
| NG_007459.1:g.32716A>T , LRG_614:g.32716A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000639857.2:c.137+49A>T | ENSP00000491593.2:n.137+49A>T | |
| ENST00000685487.1:c.137+49A>T | ENSP00000508503.1:n.137+49A>T | |
| ENST00000687906.1:c.137+49A>T | ENSP00000509536.1:n.137+49A>T | |
| ENST00000688597.1:c.137+49A>T | ENSP00000510628.1:n.137+49A>T | |
| ENST00000690210.1:c.137+49A>T | ENSP00000509272.1:n.137+49A>T | |
| ENST00000692624.1:c.137+49A>T | ENSP00000508953.1:n.137+49A>T | |
| ENST00000351677.7:c.137+49A>T MANE Select | ENSP00000340944.3:n.137+49A>T | |
| ENST00000639857.1:c.137+49A>T | ENSP00000491593.1:n.137+49A>T | |
| ENST00000351677.6:c.137+49A>T | ENSP00000340944.2:n.137+49A>T | |
| ENST00000392597.5:c.137+49A>T | ENSP00000376376.1:n.137+49A>T | |
| ENST00000635625.1:c.137+49A>T | ENSP00000489597.1:n.137+49A>T | |
| NM_002834.3:c.137+49A>T , LRG_614t1:c.137+49A>T | NP_002825.3:n.137+49A>T | |
| NM_080601.1:c.137+49A>T | NP_542168.1:n.137+49A>T | |
| XM_006719526.1:c.137+49A>T | XP_006719589.1:n.137+49A>T | |
| XM_006719527.1:c.137+49A>T | XP_006719590.1:n.137+49A>T | |
| XM_011538613.1:c.137+49A>T | XP_011536915.1:n.137+49A>T | |
| NM_001330437.1:c.137+49A>T | NP_001317366.1:n.137+49A>T | |
| NM_002834.4:c.137+49A>T | NP_002825.3:n.137+49A>T | |
| NM_080601.2:c.137+49A>T | NP_542168.1:n.137+49A>T | |
| XM_011538613.2:c.137+49A>T | XP_011536915.1:n.137+49A>T | |
| XM_017019722.1:c.137+49A>T | XP_016875211.1:n.137+49A>T | |
| NM_001330437.2:c.137+49A>T | NP_001317366.1:n.137+49A>T | |
| NM_001374625.1:c.137+49A>T | NP_001361554.1:n.137+49A>T | |
| NM_002834.5:c.137+49A>T MANE Select | NP_002825.3:n.137+49A>T | |
| NM_080601.3:c.137+49A>T | NP_542168.1:n.137+49A>T |