Linked Data
dbSNP Id:
rs13037749
gnomAD v2:
20-40064559-A-G
gnomAD v3:
20-41435919-A-G
gnomAD v4:
20-41435919-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.41435919A>G , CM000682.2:g.41435919A>G | GRCh38 |
| NC_000020.10:g.40064559A>G , CM000682.1:g.40064559A>G | GRCh37 |
| NC_000020.9:g.39497973A>G | NCBI36 |
| NG_050686.1:g.187576T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373233.8:c.4068+1355T>C MANE Select | ENSP00000362330.3:n.4068+1355T>C | |
| ENST00000373233.7:c.4068+1355T>C | ENSP00000362330.3:n.4068+1355T>C | |
| ENST00000440697.5:c.1623+1355T>C | ||
| NM_032221.4:c.4068+1355T>C | NP_115597.3:n.4068+1355T>C | |
| XM_005260573.1:c.4002+1355T>C | XP_005260630.1:n.4002+1355T>C | |
| XM_005260574.2:c.3924+1355T>C | XP_005260631.1:n.3924+1355T>C | |
| XM_005260575.2:c.4068+1355T>C | XP_005260632.1:n.4068+1355T>C | |
| XM_005260576.3:c.20+1355T>C | XP_005260633.1:n.20+1355T>C | |
| XM_006723883.2:c.4068+1355T>C | XP_006723946.1:n.4068+1355T>C | |
| XM_011529080.1:c.4062+1355T>C | XP_011527382.1:n.4062+1355T>C | |
| XM_011529081.1:c.4068+1355T>C | XP_011527383.1:n.4068+1355T>C | |
| XM_011529082.1:c.2037+1355T>C | XP_011527384.1:n.2037+1355T>C | |
| XM_005260573.2:c.4002+1355T>C | XP_005260630.1:n.4002+1355T>C | |
| XM_005260576.4:c.20+1355T>C | XP_005260633.1:n.20+1355T>C | |
| XM_011529080.2:c.4062+1355T>C | XP_011527382.1:n.4062+1355T>C | |
| XM_011529082.2:c.2037+1355T>C | XP_011527384.1:n.2037+1355T>C | |
| XM_017028099.2:c.4071+1355T>C | XP_016883588.1:n.4071+1355T>C | |
| XM_017028100.1:c.4002+1355T>C | XP_016883589.1:n.4002+1355T>C | |
| XM_017028101.1:c.3927+1355T>C | XP_016883590.1:n.3927+1355T>C | |
| XM_017028102.1:c.4071+1355T>C | XP_016883591.1:n.4071+1355T>C | |
| XM_017028103.1:c.3066+1355T>C | XP_016883592.1:n.3066+1355T>C | |
| XM_017028104.1:c.4071+1355T>C | XP_016883593.1:n.4071+1355T>C | |
| XR_001754421.2:n.5736+1355T>C | ||
| NM_032221.5:c.4068+1355T>C MANE Select | NP_115597.3:n.4068+1355T>C |