Linked Data
dbSNP Id:
rs2048327
gnomAD v2:
6-160863532-T-C
gnomAD v3:
6-160442500-T-C
gnomAD v4:
6-160442500-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160442500T>C , CM000668.2:g.160442500T>C | GRCh38 |
| NC_000006.11:g.160863532T>C , CM000668.1:g.160863532T>C | GRCh37 |
| NC_000006.10:g.160783522T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000275300.3:c.1289-261T>C MANE Select | ENSP00000275300.2:n.1289-261T>C | |
| ENST00000275300.2:c.1289-261T>C | ENSP00000275300.2:n.1289-261T>C | |
| NM_021977.3:c.1289-261T>C | NP_068812.1:n.1289-261T>C | |
| XM_005267106.3:c.896-261T>C | XP_005267163.1:n.896-261T>C | |
| XM_011536075.1:c.833-261T>C | XP_011534377.1:n.833-261T>C | |
| XM_011536076.1:c.833-261T>C | XP_011534378.1:n.833-261T>C | |
| XM_011536077.1:c.833-261T>C | XP_011534379.1:n.833-261T>C | |
| XR_245546.1:n.1018-261T>C | ||
| XM_005267106.5:c.896-261T>C | XP_005267163.1:n.896-261T>C | |
| XM_011536075.2:c.833-261T>C | XP_011534377.1:n.833-261T>C | |
| XM_011536076.3:c.833-261T>C | XP_011534378.1:n.833-261T>C | |
| XM_017011203.2:c.833-261T>C | XP_016866692.1:n.833-261T>C | |
| XR_001743588.1:n.1233-261T>C | ||
| XR_001743589.1:n.1018-261T>C | ||
| NM_021977.4:c.1289-261T>C MANE Select | NP_068812.1:n.1289-261T>C |