Linked Data
ClinVar Variation Id:
402453
dbSNP Id:
rs10985112
ExAC:
9:123731408 G / A
gnomAD v2:
9-123731408-G-A
gnomAD v3:
9-120969130-G-A
gnomAD v4:
9-120969130-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120969130G>A , CM000671.2:g.120969130G>A | GRCh38 |
| NC_000009.11:g.123731408G>A , CM000671.1:g.123731408G>A | GRCh37 |
| NC_000009.10:g.122771229G>A | NCBI36 |
| NG_007364.1:g.86147C>T , LRG_28:g.86147C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000480188.2:n.1197-12C>T | ||
| ENST00000696279.1:c.4483-12C>T | ||
| ENST00000696280.1:n.4252-12C>T | ||
| ENST00000696281.1:c.4181-12C>T | ENSP00000512521.1:n.4181-12C>T | |
| ENST00000697921.1:n.3041-12C>T | ||
| ENST00000697922.1:c.*4153-12C>T | ENSP00000513478.1:n.*4153-12C>T | |
| ENST00000697923.1:n.4608-12C>T | ||
| ENST00000223642.3:c.4163-12C>T MANE Select | ENSP00000223642.1:n.4163-12C>T | |
| ENST00000223642.2:c.4163-12C>T | ENSP00000223642.1:n.4163-12C>T | |
| NM_001735.2:c.4163-12C>T , LRG_28t1:c.4163-12C>T | NP_001726.2:n.4163-12C>T | |
| XM_011518980.1:c.4178-12C>T | XP_011517282.1:n.4178-12C>T | |
| NM_001317163.1:c.4181-12C>T | NP_001304092.1:n.4181-12C>T | |
| NM_001317163.2:c.4181-12C>T | NP_001304092.1:n.4181-12C>T | |
| NM_001735.3:c.4163-12C>T MANE Select | NP_001726.2:n.4163-12C>T |