Linked Data
dbSNP Id:
rs2457571
gnomAD v2:
6-160834828-T-C
gnomAD v3:
6-160413796-T-C
gnomAD v4:
6-160413796-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160413796T>C , CM000668.2:g.160413796T>C | GRCh38 |
| NC_000006.11:g.160834828T>C , CM000668.1:g.160834828T>C | GRCh37 |
| NC_000006.10:g.160754818T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000275300.3:c.975+2950T>C MANE Select | ENSP00000275300.2:n.975+2950T>C | |
| ENST00000275300.2:c.975+2950T>C | ENSP00000275300.2:n.975+2950T>C | |
| NM_021977.3:c.975+2950T>C | NP_068812.1:n.975+2950T>C | |
| XM_005267106.3:c.582+2950T>C | XP_005267163.1:n.582+2950T>C | |
| XM_005267107.2:c.975+2950T>C | XP_005267164.1:n.975+2950T>C | |
| XM_011536075.1:c.519+2950T>C | XP_011534377.1:n.519+2950T>C | |
| XM_011536076.1:c.519+2950T>C | XP_011534378.1:n.519+2950T>C | |
| XM_011536077.1:c.519+2950T>C | XP_011534379.1:n.519+2950T>C | |
| XM_011536078.1:c.975+2950T>C | XP_011534380.1:n.975+2950T>C | |
| XR_245546.1:n.1017+2950T>C | ||
| XM_005267106.5:c.582+2950T>C | XP_005267163.1:n.582+2950T>C | |
| XM_005267107.3:c.975+2950T>C | XP_005267164.1:n.975+2950T>C | |
| XM_011536075.2:c.519+2950T>C | XP_011534377.1:n.519+2950T>C | |
| XM_011536076.3:c.519+2950T>C | XP_011534378.1:n.519+2950T>C | |
| XM_017011203.2:c.519+2950T>C | XP_016866692.1:n.519+2950T>C | |
| XR_001743588.1:n.1017+2950T>C | ||
| XR_001743589.1:n.1017+2950T>C | ||
| NM_021977.4:c.975+2950T>C MANE Select | NP_068812.1:n.975+2950T>C |