Linked Data
dbSNP Id:
rs1934328
gnomAD v2:
6-45465753-A-T
gnomAD v3:
6-45498016-A-T
gnomAD v4:
6-45498016-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.45498016A>T , CM000668.2:g.45498016A>T | GRCh38 |
| NC_000006.11:g.45465753A>T , CM000668.1:g.45465753A>T | GRCh37 |
| NC_000006.10:g.45573731A>T | NCBI36 |
| NG_008020.1:g.174700A>T | |
| NG_008020.2:g.174700A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646519.1:c.817+5902A>T | ENSP00000496517.1:n.817+5902A>T | |
| ENST00000647337.2:c.859+5902A>T MANE Select | ENSP00000495497.1:n.859+5902A>T | |
| ENST00000359524.7:c.817+5902A>T | ENSP00000352514.5:n.817+5902A>T | |
| ENST00000371432.7:c.859+5902A>T | ENSP00000360486.4:n.859+5902A>T | |
| ENST00000371436.10:c.859+5902A>T | ENSP00000360491.6:n.859+5902A>T | |
| ENST00000371438.5:c.859+5902A>T | ENSP00000360493.1:n.859+5902A>T | |
| ENST00000465038.6:c.859+5902A>T | ENSP00000420707.2:n.859+5902A>T | |
| ENST00000478660.6:c.644-14230A>T | ENSP00000460188.1:n.644-14230A>T | |
| ENST00000483377.5:c.*380+5902A>T | ENSP00000461357.1:n.*380+5902A>T | |
| ENST00000576263.5:c.859+5902A>T | ENSP00000458178.1:n.859+5902A>T | |
| ENST00000625924.1:c.817+5902A>T | ENSP00000485863.1:n.817+5902A>T | |
| NM_001015051.3:c.859+5902A>T | NP_001015051.3:n.859+5902A>T | |
| NM_001024630.3:c.859+5902A>T | NP_001019801.3:n.859+5902A>T | |
| NM_001278478.1:c.817+5902A>T | NP_001265407.1:n.817+5902A>T | |
| XM_006715232.1:c.644-14230A>T | XP_006715295.1:n.644-14230A>T | |
| XM_011514960.1:c.1063+5902A>T | XP_011513262.1:n.1063+5902A>T | |
| XM_011514961.1:c.1063+5902A>T | XP_011513263.1:n.1063+5902A>T | |
| XM_011514962.1:c.1063+5902A>T | XP_011513264.1:n.1063+5902A>T | |
| XM_011514963.1:c.890-14230A>T | XP_011513265.1:n.890-14230A>T | |
| XM_011514964.1:c.1063+5902A>T | XP_011513266.1:n.1063+5902A>T | |
| XM_011514965.1:c.1063+5902A>T | XP_011513267.1:n.1063+5902A>T | |
| XM_011514966.1:c.391+5902A>T | XP_011513268.1:n.391+5902A>T | |
| XR_926323.1:n.1657+5054A>T | ||
| NM_001024630.4:c.859+5902A>T MANE Select | NP_001019801.3:n.859+5902A>T | |
| NM_001278478.2:c.817+5902A>T | NP_001265407.1:n.817+5902A>T | |
| NM_001369405.1:c.817+5902A>T | NP_001356334.1:n.817+5902A>T | |
| NM_001015051.4:c.859+5902A>T | NP_001015051.3:n.859+5902A>T |