Linked Data
dbSNP Id:
rs745391023
ExAC:
2:234183371 C / T
gnomAD v2:
2-234183371-C-T
gnomAD v3:
2-233274725-C-T
gnomAD v4:
2-233274725-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233274725C>T , CM000664.2:g.233274725C>T | GRCh38 |
| NC_000002.11:g.234183371C>T , CM000664.1:g.234183371C>T | GRCh37 |
| NC_000002.10:g.233848110C>T | NCBI36 |
| NG_023038.1:g.28155C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392017.9:c.901C>T MANE Select | ENSP00000375872.4:p.His301Tyr | |
| ENST00000347464.9:c.412C>T | ENSP00000318259.6:p.His138Tyr | |
| ENST00000373525.9:c.469C>T | ENSP00000362625.5:p.His157Tyr | |
| ENST00000392017.8:c.901C>T | ENSP00000375872.4:p.His301Tyr | |
| ENST00000392018.1:c.952C>T | ENSP00000375873.1:p.His318Tyr | |
| ENST00000392020.8:c.844C>T | ENSP00000375875.4:p.His282Tyr | |
| ENST00000392021.7:c.*782C>T | ENSP00000375876.3:n.*782C>T | |
| ENST00000419681.5:c.412C>T | ENSP00000398773.1:p.His138Tyr | |
| ENST00000444735.5:c.520C>T | ENSP00000409215.1:p.His174Tyr | |
| ENST00000474148.5:n.1696C>T | ||
| ENST00000479942.5:n.1047C>T | ||
| ENST00000492298.5:n.422C>T | ||
| ENST00000498620.5:n.408C>T | ||
| NM_001190266.1:c.649C>T | NP_001177195.1:p.His217Tyr | |
| NM_001190267.1:c.553C>T | NP_001177196.1:p.His185Tyr | |
| NM_017974.3:c.844C>T | NP_060444.3:p.His282Tyr | |
| NM_030803.6:c.901C>T | NP_110430.5:p.His301Tyr | |
| NM_198890.2:c.412C>T | NP_942593.2:p.His138Tyr | |
| XM_005246082.1:c.952C>T | XP_005246139.1:p.His318Tyr | |
| XM_005246084.1:c.520C>T | XP_005246141.1:p.His174Tyr | |
| XM_005246086.1:c.469C>T | XP_005246143.1:p.His157Tyr | |
| XM_006712608.1:c.700C>T | XP_006712671.1:p.His234Tyr | |
| XR_241242.1:n.1146C>T | ||
| NM_001363742.1:c.952C>T | NP_001350671.1:p.His318Tyr | |
| XM_005246084.2:c.520C>T | XP_005246141.1:p.His174Tyr | |
| XM_005246086.2:c.469C>T | XP_005246143.1:p.His157Tyr | |
| XM_006712608.3:c.700C>T | XP_006712671.1:p.His234Tyr | |
| XR_001738801.2:n.1082C>T | ||
| XR_241242.3:n.1133C>T | ||
| NM_030803.7:c.901C>T MANE Select | NP_110430.5:p.His301Tyr | |
| NM_001190266.2:c.649C>T | NP_001177195.1:p.His217Tyr | |
| NM_001190267.2:c.553C>T | NP_001177196.1:p.His185Tyr | |
| NM_001363742.2:c.952C>T | NP_001350671.1:p.His318Tyr | |
| NM_017974.4:c.844C>T | NP_060444.3:p.His282Tyr | |
| NM_198890.3:c.412C>T | NP_942593.2:p.His138Tyr |