Linked Data
dbSNP Id:
rs4663402
gnomAD v2:
2-234193663-A-T
gnomAD v3:
2-233285017-A-T
gnomAD v4:
2-233285017-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233285017A>T , CM000664.2:g.233285017A>T | GRCh38 |
| NC_000002.11:g.234193663A>T , CM000664.1:g.234193663A>T | GRCh37 |
| NC_000002.10:g.233858402A>T | NCBI36 |
| NG_023038.1:g.38447A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392017.9:c.1203+2264A>T MANE Select | ENSP00000375872.4:n.1203+2264A>T | |
| ENST00000347464.9:c.714+2264A>T | ENSP00000318259.6:n.714+2264A>T | |
| ENST00000373525.9:c.666+2264A>T | ENSP00000362625.5:n.666+2264A>T | |
| ENST00000392017.8:c.1203+2264A>T | ENSP00000375872.4:n.1203+2264A>T | |
| ENST00000392018.1:c.1254+2264A>T | ENSP00000375873.1:n.1254+2264A>T | |
| ENST00000392020.8:c.1146+2264A>T | ENSP00000375875.4:n.1146+2264A>T | |
| ENST00000392021.7:c.*1084+2264A>T | ENSP00000375876.3:n.*1084+2264A>T | |
| ENST00000464645.5:n.338+2264A>T | ||
| ENST00000474148.5:n.1998+2264A>T | ||
| ENST00000479942.5:n.1349+2264A>T | ||
| ENST00000498620.5:n.710+2264A>T | ||
| NM_001190266.1:c.951+2264A>T | NP_001177195.1:n.951+2264A>T | |
| NM_001190267.1:c.855+2264A>T | NP_001177196.1:n.855+2264A>T | |
| NM_017974.3:c.1146+2264A>T | NP_060444.3:n.1146+2264A>T | |
| NM_030803.6:c.1203+2264A>T | NP_110430.5:n.1203+2264A>T | |
| NM_198890.2:c.714+2264A>T | NP_942593.2:n.714+2264A>T | |
| XM_005246082.1:c.1254+2264A>T | XP_005246139.1:n.1254+2264A>T | |
| XM_005246084.1:c.822+2264A>T | XP_005246141.1:n.822+2264A>T | |
| XM_005246086.1:c.771+2264A>T | XP_005246143.1:n.771+2264A>T | |
| XM_006712608.1:c.1002+2264A>T | XP_006712671.1:n.1002+2264A>T | |
| XR_241242.1:n.1448+2264A>T | ||
| NM_001363742.1:c.1254+2264A>T | NP_001350671.1:n.1254+2264A>T | |
| XM_005246084.2:c.822+2264A>T | XP_005246141.1:n.822+2264A>T | |
| XM_005246086.2:c.771+2264A>T | XP_005246143.1:n.771+2264A>T | |
| XM_006712608.3:c.1002+2264A>T | XP_006712671.1:n.1002+2264A>T | |
| XR_001738801.2:n.1384+2264A>T | ||
| XR_241242.3:n.1435+2264A>T | ||
| NM_030803.7:c.1203+2264A>T MANE Select | NP_110430.5:n.1203+2264A>T | |
| NM_001190266.2:c.951+2264A>T | NP_001177195.1:n.951+2264A>T | |
| NM_001190267.2:c.855+2264A>T | NP_001177196.1:n.855+2264A>T | |
| NM_001363742.2:c.1254+2264A>T | NP_001350671.1:n.1254+2264A>T | |
| NM_017974.4:c.1146+2264A>T | NP_060444.3:n.1146+2264A>T | |
| NM_198890.3:c.714+2264A>T | NP_942593.2:n.714+2264A>T |