Linked Data
dbSNP Id:
rs1126772
gnomAD v2:
4-88904186-A-G
gnomAD v3:
4-87983034-A-G
gnomAD v4:
4-87983034-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.87983034A>G , CM000666.2:g.87983034A>G | GRCh38 |
| NC_000004.11:g.88904186A>G , CM000666.1:g.88904186A>G | GRCh37 |
| NC_000004.10:g.89123210A>G | NCBI36 |
| NG_030362.1:g.12385A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000614857.5:c.*138A>G | ENSP00000477824.2:n.*138A>G | |
| ENST00000681973.1:n.1310A>G | ||
| ENST00000682026.1:n.1036A>G | ||
| ENST00000682448.1:n.2569A>G | ||
| ENST00000682554.1:n.2531A>G | ||
| ENST00000682599.1:n.3571A>G | ||
| ENST00000682627.1:n.1003A>G | ||
| ENST00000682865.1:n.1367A>G | ||
| ENST00000683087.1:n.1097A>G | ||
| ENST00000683168.1:n.1837A>G | ||
| ENST00000683620.1:n.2265A>G | ||
| ENST00000684106.1:n.3333A>G | ||
| ENST00000684450.1:n.2142A>G | ||
| ENST00000684710.1:n.2374A>G | ||
| ENST00000395080.8:c.*138A>G MANE Select | ENSP00000378517.3:n.*138A>G | |
| ENST00000237623.11:c.*138A>G | ENSP00000237623.7:n.*138A>G | |
| ENST00000360804.4:c.*138A>G | ENSP00000354042.4:n.*138A>G | |
| ENST00000395080.7:c.*138A>G | ENSP00000378517.3:n.*138A>G | |
| ENST00000509659.5:n.1372A>G | ||
| ENST00000614857.4:c.*138A>G | ENSP00000477824.1:n.*138A>G | |
| NM_000582.2:c.*138A>G | NP_000573.1:n.*138A>G | |
| NM_001040058.1:c.*138A>G | NP_001035147.1:n.*138A>G | |
| NM_001040060.1:c.*138A>G | NP_001035149.1:n.*138A>G | |
| NM_001251829.1:c.*138A>G | NP_001238758.1:n.*138A>G | |
| NM_001251830.1:c.*138A>G | NP_001238759.1:n.*138A>G | |
| NM_001040058.2:c.*138A>G MANE Select | NP_001035147.1:n.*138A>G | |
| NM_000582.3:c.*138A>G | NP_000573.1:n.*138A>G | |
| NM_001040060.2:c.*138A>G | NP_001035149.1:n.*138A>G | |
| NM_001251829.2:c.*138A>G | NP_001238758.1:n.*138A>G | |
| NM_001251830.2:c.*138A>G | NP_001238759.1:n.*138A>G |