Linked Data
ClinVar Variation Id:
1474938
ClinVar RCV Id:
RCV001973749
dbSNP Id:
rs1378225599
gnomAD v3:
6-45547126-G-T
gnomAD v4:
6-45547126-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.45547126G>T , CM000668.2:g.45547126G>T | GRCh38 |
| NC_000006.11:g.45514863G>T , CM000668.1:g.45514863G>T | GRCh37 |
| NC_000006.10:g.45622841G>T | NCBI36 |
| NG_008020.1:g.223810G>T | |
| NG_008020.2:g.223810G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646519.1:c.*544G>T | ENSP00000496517.1:n.*544G>T | |
| ENST00000647337.2:c.1387G>T MANE Select | ENSP00000495497.1:p.Asp463Tyr | |
| ENST00000359524.7:c.1345G>T | ENSP00000352514.5:p.Asp449Tyr | |
| ENST00000371432.7:c.1321G>T | ENSP00000360486.4:p.Asp441Tyr | |
| ENST00000371436.10:c.1321G>T | ENSP00000360491.6:p.Asp441Tyr | |
| ENST00000371438.5:c.1387G>T | ENSP00000360493.1:p.Asp463Tyr | |
| ENST00000465038.6:c.1387G>T | ENSP00000420707.2:p.Asp463Tyr | |
| ENST00000478660.6:c.*178+33473G>T | ENSP00000460188.1:n.*178+33473G>T | |
| ENST00000483377.5:c.*908G>T | ENSP00000461357.1:n.*908G>T | |
| ENST00000576263.5:c.1021+34719G>T | ENSP00000458178.1:n.1021+34719G>T | |
| ENST00000625924.1:c.1279G>T | ENSP00000485863.1:p.Asp427Tyr | |
| NM_001015051.3:c.1321G>T | NP_001015051.3:p.Asp441Tyr | |
| NM_001024630.3:c.1387G>T | NP_001019801.3:p.Asp463Tyr | |
| NM_001278478.1:c.1279G>T | NP_001265407.1:p.Asp427Tyr | |
| XM_006715232.1:c.1171G>T | XP_006715295.1:p.Asp391Tyr | |
| XM_011514960.1:c.1225+34719G>T | XP_011513262.1:n.1225+34719G>T | |
| XM_011514961.1:c.1591G>T | XP_011513263.1:p.Asp531Tyr | |
| XM_011514962.1:c.1525G>T | XP_011513264.1:p.Asp509Tyr | |
| XM_011514963.1:c.1051+34719G>T | XP_011513265.1:n.1051+34719G>T | |
| XM_011514964.1:c.1435+156G>T | XP_011513266.1:n.1435+156G>T | |
| XM_011514966.1:c.553+34719G>T | XP_011513268.1:n.553+34719G>T | |
| NM_001024630.4:c.1387G>T MANE Select | NP_001019801.3:p.Asp463Tyr | |
| NM_001278478.2:c.1279G>T | NP_001265407.1:p.Asp427Tyr | |
| NM_001369405.1:c.1345G>T | NP_001356334.1:p.Asp449Tyr | |
| NM_001015051.4:c.1321G>T | NP_001015051.3:p.Asp441Tyr |