Linked Data
dbSNP Id:
rs368866996
gnomAD v2:
19-45855472-G-A
gnomAD v3:
19-45352214-G-A
gnomAD v4:
19-45352214-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352214G>A , CM000681.2:g.45352214G>A | GRCh38 |
| NC_000019.9:g.45855472G>A , CM000681.1:g.45855472G>A | GRCh37 |
| NC_000019.8:g.50547312G>A | NCBI36 |
| NG_007067.2:g.23374C>T , LRG_461:g.23374C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.2185C>T | ENSP00000375808.4:p.His729Tyr | |
| ENST00000682414.1:c.2185C>T | ENSP00000507019.1:p.His729Tyr | |
| ENST00000682508.1:n.2214C>T | ||
| ENST00000684218.1:c.*1443C>T | ENSP00000507804.1:n.*1443C>T | |
| ENST00000684264.1:n.1741C>T | ||
| ENST00000684407.1:c.2062C>T | ENSP00000507775.1:p.His688Tyr | |
| ENST00000684458.1:c.*671C>T | ENSP00000508260.1:n.*671C>T | |
| ENST00000684468.1:n.1897C>T | ||
| ENST00000391945.10:c.2185C>T MANE Select | ENSP00000375809.4:p.His729Tyr | |
| ENST00000646507.1:n.2282C>T | ||
| ENST00000391941.6:c.2113C>T | ENSP00000375805.2:p.His705Tyr | |
| ENST00000391942.6:n.1356C>T | ||
| ENST00000391944.7:c.1951C>T | ENSP00000375808.3:p.His651Tyr | |
| ENST00000391945.8:c.2185C>T | ENSP00000375809.3:p.His729Tyr | |
| ENST00000588652.5:n.2273C>T | ||
| NM_000400.3:c.2185C>T , LRG_461t1:c.2185C>T | NP_000391.1:p.His729Tyr | |
| XM_011526611.1:c.2107C>T | XP_011524913.1:p.His703Tyr | |
| XM_011526611.2:c.2107C>T | XP_011524913.1:p.His703Tyr | |
| XM_017026467.1:c.2062C>T | XP_016881956.1:p.His688Tyr | |
| XR_001753633.2:n.2232C>T | ||
| XR_001753634.2:n.2168C>T | ||
| NM_000400.4:c.2185C>T MANE Select | NP_000391.1:p.His729Tyr |