Linked Data
dbSNP Id:
rs755227721
ExAC:
12:40734097 T / C
gnomAD v2:
12-40734097-T-C
gnomAD v4:
12-40340295-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40340295T>C , CM000674.2:g.40340295T>C | GRCh38 |
| NC_000012.11:g.40734097T>C , CM000674.1:g.40734097T>C | GRCh37 |
| NC_000012.10:g.39020364T>C | NCBI36 |
| NG_011709.1:g.120285T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298910.12:c.5950T>C MANE Select | ENSP00000298910.7:p.Tyr1984His | |
| ENST00000679360.1:c.*4859T>C | ENSP00000505368.1:n.*4859T>C | |
| ENST00000679532.1:c.1724T>C | ||
| ENST00000680018.1:c.1395T>C | ENSP00000505347.1:n.1395T>C | |
| ENST00000680422.1:c.1595T>C | ||
| ENST00000680425.1:c.1117T>C | ENSP00000506459.1:n.1117T>C | |
| ENST00000680453.1:c.1407T>C | ||
| ENST00000680790.1:c.5695T>C | ENSP00000505335.1:p.Tyr1899His | |
| ENST00000681136.1:n.1934T>C | ||
| ENST00000681696.1:c.1633T>C | ENSP00000505871.1:p.Tyr545His | |
| ENST00000298910.11:c.5950T>C | ENSP00000298910.7:p.Tyr1984His | |
| ENST00000430804.5:c.3246T>C | ||
| ENST00000479187.5:n.2631T>C | ||
| NM_198578.3:c.5950T>C | NP_940980.3:p.Tyr1984His | |
| XM_005268629.2:c.5950T>C | XP_005268686.1:p.Tyr1984His | |
| XM_011537877.1:c.5950T>C | XP_011536179.1:p.Tyr1984His | |
| XM_011537878.1:c.5950T>C | XP_011536180.1:p.Tyr1984His | |
| XM_011537879.1:c.4747T>C | XP_011536181.1:p.Tyr1583His | |
| XM_005268629.4:c.5950T>C | XP_005268686.1:p.Tyr1984His | |
| XM_011537877.3:c.5950T>C | XP_011536179.1:p.Tyr1984His | |
| XM_017018787.1:c.2866T>C | XP_016874276.1:p.Tyr956His | |
| XM_017018788.2:c.2212T>C | XP_016874277.1:p.Tyr738His | |
| XM_024448833.1:c.4747T>C | XP_024304601.1:p.Tyr1583His | |
| NM_198578.4:c.5950T>C MANE Select | NP_940980.4:p.Tyr1984His |