Linked Data
ClinVar Variation Id:
375538
ClinVar RCV Id:
RCV000416956
dbSNP Id:
rs1057519554
gnomAD v2:
16-1251996-C-T
gnomAD v4:
16-1201996-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1201996C>T , CM000678.2:g.1201996C>T | GRCh38 |
| NC_000016.9:g.1251996C>T , CM000678.1:g.1251996C>T | GRCh37 |
| NC_000016.8:g.1191997C>T | NCBI36 |
| NG_012647.1:g.53756C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000562079.6:c.1546C>T | ENSP00000454581.2:p.His516Tyr | |
| ENST00000564231.6:c.1546C>T | ENSP00000457555.2:p.His516Tyr | |
| ENST00000565831.7:c.1546C>T | ENSP00000455840.1:p.His516Tyr | |
| ENST00000569107.6:c.1546C>T | ENSP00000454990.2:p.His516Tyr | |
| ENST00000621827.2:c.1546C>T | ENSP00000518766.1:p.His516Tyr | |
| ENST00000637236.3:c.1546C>T | ENSP00000492650.2:p.His516Tyr | |
| ENST00000711438.1:c.1507C>T | ENSP00000518754.1:p.His503Tyr | |
| ENST00000711442.1:c.*993C>T | ENSP00000518758.1:n.*993C>T | |
| ENST00000711443.1:n.811C>T | ||
| ENST00000711447.1:c.778C>T | ENSP00000518759.1:p.His260Tyr | |
| ENST00000711448.1:c.1546C>T | ENSP00000518760.1:p.His516Tyr | |
| ENST00000711449.1:c.1546C>T | ENSP00000518761.1:p.His516Tyr | |
| ENST00000711450.1:c.1546C>T | ENSP00000518762.1:p.His516Tyr | |
| ENST00000711451.1:c.1546C>T | ENSP00000518763.1:p.His516Tyr | |
| ENST00000711452.1:c.1546C>T | ENSP00000518764.1:p.His516Tyr | |
| ENST00000711453.1:c.1546C>T | ENSP00000518765.1:p.His516Tyr | |
| ENST00000711455.1:c.1546C>T | ENSP00000518768.1:p.His516Tyr | |
| ENST00000711456.1:c.1546C>T | ENSP00000518769.1:p.His516Tyr | |
| ENST00000711481.1:c.*729C>T | ENSP00000518770.1:n.*729C>T | |
| ENST00000711482.1:c.1546C>T | ENSP00000518771.1:p.His516Tyr | |
| ENST00000711483.1:c.1546C>T | ENSP00000518772.1:p.His516Tyr | |
| ENST00000711484.1:c.1546C>T | ENSP00000518773.1:p.His516Tyr | |
| ENST00000711485.1:c.1546C>T | ENSP00000518774.1:p.His516Tyr | |
| ENST00000711486.1:c.1546C>T | ENSP00000518775.1:p.His516Tyr | |
| ENST00000711487.1:c.1546C>T | ENSP00000518776.1:p.His516Tyr | |
| ENST00000711488.1:c.1546C>T | ENSP00000518777.1:p.His516Tyr | |
| ENST00000711493.1:c.1546C>T | ENSP00000518778.1:p.His516Tyr | |
| ENST00000348261.11:c.1546C>T MANE Select | ENSP00000334198.7:p.His516Tyr | |
| ENST00000565831.6:c.1546C>T | ENSP00000455840.1:p.His516Tyr | |
| ENST00000638323.1:c.1507C>T | ENSP00000492267.1:p.His503Tyr | |
| ENST00000639478.1:c.1546C>T | ENSP00000491945.1:p.His516Tyr | |
| ENST00000640028.1:c.1385+161C>T | ENSP00000491488.1:n.1385+161C>T | |
| ENST00000348261.9:c.1546C>T | ENSP00000334198.7:p.His516Tyr | |
| ENST00000358590.8:c.1546C>T | ENSP00000351401.4:p.His516Tyr | |
| ENST00000565831.5:c.1546C>T | ENSP00000455840.1:p.His516Tyr | |
| NM_001005407.1:c.1546C>T | NP_001005407.1:p.His516Tyr | |
| NM_021098.2:c.1546C>T | NP_066921.2:p.His516Tyr | |
| XM_005255652.3:c.1546C>T | XP_005255709.1:p.His516Tyr | |
| XM_006720963.2:c.1546C>T | XP_006721026.1:p.His516Tyr | |
| XM_006720964.2:c.1546C>T | XP_006721027.1:p.His516Tyr | |
| XM_006720965.2:c.1546C>T | XP_006721028.1:p.His516Tyr | |
| XM_006720967.2:c.1546C>T | XP_006721030.1:p.His516Tyr | |
| XM_006720968.2:c.1546C>T | XP_006721031.1:p.His516Tyr | |
| XM_006720969.2:c.1546C>T | XP_006721032.1:p.His516Tyr | |
| XM_011522724.1:c.1000C>T | XP_011521026.1:p.His334Tyr | |
| XM_011522726.1:c.1546C>T | XP_011521028.1:p.His516Tyr | |
| XM_011522727.1:c.1546C>T | XP_011521029.1:p.His516Tyr | |
| XR_932960.1:n.1648C>T | ||
| XM_005255652.4:c.1546C>T | XP_005255709.1:p.His516Tyr | |
| XM_006720963.3:c.1546C>T | XP_006721026.1:p.His516Tyr | |
| XM_006720964.3:c.1546C>T | XP_006721027.1:p.His516Tyr | |
| XM_006720965.3:c.1546C>T | XP_006721028.1:p.His516Tyr | |
| XM_006720967.3:c.1546C>T | XP_006721030.1:p.His516Tyr | |
| XM_006720968.3:c.1546C>T | XP_006721031.1:p.His516Tyr | |
| XM_011522724.2:c.1000C>T | XP_011521026.1:p.His334Tyr | |
| XM_011522727.3:c.1546C>T | XP_011521029.1:p.His516Tyr | |
| XM_017023819.1:c.1507C>T | XP_016879308.1:p.His503Tyr | |
| XM_017023820.1:c.1546C>T | XP_016879309.1:p.His516Tyr | |
| XM_017023821.1:c.1546C>T | XP_016879310.1:p.His516Tyr | |
| XR_002957850.1:n.1644C>T | ||
| NM_021098.3:c.1546C>T MANE Select | NP_066921.2:p.His516Tyr | |
| NM_001005407.2:c.1546C>T | NP_001005407.1:p.His516Tyr |