Linked Data
dbSNP Id:
rs3792106
gnomAD v2:
2-234190740-T-C
gnomAD v3:
2-233282094-T-C
gnomAD v4:
2-233282094-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233282094T>C , CM000664.2:g.233282094T>C | GRCh38 |
| NC_000002.11:g.234190740T>C , CM000664.1:g.234190740T>C | GRCh37 |
| NC_000002.10:g.233855479T>C | NCBI36 |
| NG_023038.1:g.35524T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392017.9:c.1132-588T>C MANE Select | ENSP00000375872.4:n.1132-588T>C | |
| ENST00000347464.9:c.643-588T>C | ENSP00000318259.6:n.643-588T>C | |
| ENST00000373525.9:c.595-588T>C | ENSP00000362625.5:n.595-588T>C | |
| ENST00000392017.8:c.1132-588T>C | ENSP00000375872.4:n.1132-588T>C | |
| ENST00000392018.1:c.1183-588T>C | ENSP00000375873.1:n.1183-588T>C | |
| ENST00000392020.8:c.1075-588T>C | ENSP00000375875.4:n.1075-588T>C | |
| ENST00000392021.7:c.*1013-588T>C | ENSP00000375876.3:n.*1013-588T>C | |
| ENST00000464645.5:n.267-588T>C | ||
| ENST00000472242.1:n.598-588T>C | ||
| ENST00000474148.5:n.1927-588T>C | ||
| ENST00000479942.5:n.1278-588T>C | ||
| ENST00000498620.5:n.639-588T>C | ||
| NM_001190266.1:c.880-588T>C | NP_001177195.1:n.880-588T>C | |
| NM_001190267.1:c.784-588T>C | NP_001177196.1:n.784-588T>C | |
| NM_017974.3:c.1075-588T>C | NP_060444.3:n.1075-588T>C | |
| NM_030803.6:c.1132-588T>C | NP_110430.5:n.1132-588T>C | |
| NM_198890.2:c.643-588T>C | NP_942593.2:n.643-588T>C | |
| XM_005246082.1:c.1183-588T>C | XP_005246139.1:n.1183-588T>C | |
| XM_005246084.1:c.751-588T>C | XP_005246141.1:n.751-588T>C | |
| XM_005246086.1:c.700-588T>C | XP_005246143.1:n.700-588T>C | |
| XM_006712608.1:c.931-588T>C | XP_006712671.1:n.931-588T>C | |
| XR_241242.1:n.1377-588T>C | ||
| NM_001363742.1:c.1183-588T>C | NP_001350671.1:n.1183-588T>C | |
| XM_005246084.2:c.751-588T>C | XP_005246141.1:n.751-588T>C | |
| XM_005246086.2:c.700-588T>C | XP_005246143.1:n.700-588T>C | |
| XM_006712608.3:c.931-588T>C | XP_006712671.1:n.931-588T>C | |
| XR_001738801.2:n.1313-588T>C | ||
| XR_241242.3:n.1364-588T>C | ||
| NM_030803.7:c.1132-588T>C MANE Select | NP_110430.5:n.1132-588T>C | |
| NM_001190266.2:c.880-588T>C | NP_001177195.1:n.880-588T>C | |
| NM_001190267.2:c.784-588T>C | NP_001177196.1:n.784-588T>C | |
| NM_001363742.2:c.1183-588T>C | NP_001350671.1:n.1183-588T>C | |
| NM_017974.4:c.1075-588T>C | NP_060444.3:n.1075-588T>C | |
| NM_198890.3:c.643-588T>C | NP_942593.2:n.643-588T>C |