Linked Data
dbSNP Id:
rs11675841
gnomAD v2:
2-153436570-C-T
gnomAD v3:
2-152580056-C-T
gnomAD v4:
2-152580056-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.152580056C>T , CM000664.2:g.152580056C>T | GRCh38 |
| NC_000002.11:g.153436570C>T , CM000664.1:g.153436570C>T | GRCh37 |
| NC_000002.10:g.153144816C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000475377.3:c.783-900C>T | ENSP00000418959.3:n.783-900C>T | |
| ENST00000288670.14:c.783-900C>T MANE Select | ENSP00000288670.9:n.783-900C>T | |
| ENST00000288670.13:c.783-900C>T | ENSP00000288670.9:n.783-900C>T | |
| ENST00000492942.1:n.345-900C>T | ||
| NM_052905.3:c.783-900C>T | NP_443137.2:n.783-900C>T | |
| XM_005246263.2:c.783-900C>T | XP_005246320.1:n.783-900C>T | |
| XM_005246265.2:c.783-900C>T | XP_005246322.1:n.783-900C>T | |
| XM_011510530.1:c.783-900C>T | XP_011508832.1:n.783-900C>T | |
| XM_011510531.1:c.783-900C>T | XP_011508833.1:n.783-900C>T | |
| XM_011510532.1:c.783-900C>T | XP_011508834.1:n.783-900C>T | |
| XM_011510533.1:c.783-900C>T | XP_011508835.1:n.783-900C>T | |
| XM_011510534.1:c.783-900C>T | XP_011508836.1:n.783-900C>T | |
| XM_011510535.1:c.630-900C>T | XP_011508837.1:n.630-900C>T | |
| XM_011510536.1:c.66-900C>T | XP_011508838.1:n.66-900C>T | |
| XR_241279.2:n.1217-900C>T | ||
| XM_005246265.3:c.783-900C>T | XP_005246322.1:n.783-900C>T | |
| XM_011510532.3:c.783-900C>T | XP_011508834.1:n.783-900C>T | |
| XM_011510533.3:c.783-900C>T | XP_011508835.1:n.783-900C>T | |
| XM_011510535.2:c.630-900C>T | XP_011508837.1:n.630-900C>T | |
| XM_011510536.3:c.66-900C>T | XP_011508838.1:n.66-900C>T | |
| XR_241279.4:n.1217-900C>T | ||
| NM_052905.4:c.783-900C>T MANE Select | NP_443137.2:n.783-900C>T |