Linked Data
dbSNP Id:
rs1472505462
gnomAD v2:
7-66453270-G-A
gnomAD v3:
7-66988283-G-A
gnomAD v4:
7-66988283-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66988283G>A , CM000669.2:g.66988283G>A | GRCh38 |
| NC_000007.13:g.66453270G>A , CM000669.1:g.66453270G>A | GRCh37 |
| NC_000007.12:g.66090705G>A | NCBI36 |
| NG_007277.1:g.12319C>T , LRG_104:g.12319C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000414306.6:c.*572C>T | ENSP00000394586.1:n.*572C>T | |
| ENST00000697860.1:n.808C>T | ||
| ENST00000697861.1:c.*88C>T | ENSP00000513460.1:n.*88C>T | |
| ENST00000697862.1:c.*282C>T | ENSP00000513461.1:n.*282C>T | |
| ENST00000697863.1:c.*88C>T | ENSP00000513462.1:n.*88C>T | |
| ENST00000697864.1:n.1985C>T | ||
| ENST00000697865.1:c.*88C>T | ENSP00000513463.1:n.*88C>T | |
| ENST00000697866.1:c.*88C>T | ENSP00000513464.1:n.*88C>T | |
| ENST00000697867.1:c.819C>T | ||
| ENST00000697868.1:c.*605C>T | ENSP00000513466.1:n.*605C>T | |
| ENST00000697897.1:c.*88C>T | ENSP00000513469.1:n.*88C>T | |
| ENST00000246868.7:c.*88C>T MANE Select | ENSP00000246868.2:n.*88C>T | |
| ENST00000246868.6:c.*88C>T | ENSP00000246868.2:n.*88C>T | |
| ENST00000414306.5:c.*572C>T | ENSP00000394586.1:n.*572C>T | |
| NM_016038.2:c.*88C>T , LRG_104t1:c.*88C>T | NP_057122.2:n.*88C>T | |
| NM_016038.3:c.*88C>T | NP_057122.2:n.*88C>T | |
| NM_016038.4:c.*88C>T MANE Select | NP_057122.2:n.*88C>T |