Linked Data
dbSNP Id:
rs762642
gnomAD v2:
14-54423053-A-C
gnomAD v3:
14-53956335-A-C
gnomAD v4:
14-53956335-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.53956335A>C , CM000676.2:g.53956335A>C | GRCh38 |
| NC_000014.8:g.54423053A>C , CM000676.1:g.54423053A>C | GRCh37 |
| NC_000014.7:g.53492803A>C | NCBI36 |
| NG_009215.1:g.5502T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000245451.9:c.-133+215T>G MANE Select | ENSP00000245451.4:n.-133+215T>G | |
| ENST00000245451.8:c.-133+215T>G | ENSP00000245451.4:n.-133+215T>G | |
| ENST00000558489.1:n.99+215T>G | ||
| ENST00000559087.5:c.-133+424T>G | ENSP00000453485.1:n.-133+424T>G | |
| ENST00000559642.1:c.-133+2385T>G | ENSP00000453467.1:n.-133+2385T>G | |
| NM_001202.3:c.-133+215T>G | NP_001193.2:n.-133+215T>G | |
| NM_130850.2:c.-133+424T>G | NP_570911.2:n.-133+424T>G | |
| NM_001202.5:c.-133+215T>G | NP_001193.2:n.-133+215T>G | |
| NM_001347912.1:c.62+424T>G | NP_001334841.1:n.62+424T>G | |
| NM_001347913.1:c.-269+215T>G | NP_001334842.1:n.-269+215T>G | |
| NM_130850.4:c.-133+424T>G | NP_570911.2:n.-133+424T>G | |
| NM_001202.6:c.-133+215T>G MANE Select | NP_001193.2:n.-133+215T>G | |
| NM_130850.5:c.-133+424T>G | NP_570911.2:n.-133+424T>G | |
| NM_001347913.2:c.-269+215T>G | NP_001334842.1:n.-269+215T>G |