Linked Data
ClinVar Variation Id:
908379
ClinVar RCV Id:
RCV001158853
dbSNP Id:
rs1014171607
gnomAD v2:
6-45515098-A-G
gnomAD v3:
6-45547361-A-G
gnomAD v4:
6-45547361-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.45547361A>G , CM000668.2:g.45547361A>G | GRCh38 |
| NC_000006.11:g.45515098A>G , CM000668.1:g.45515098A>G | GRCh37 |
| NC_000006.10:g.45623076A>G | NCBI36 |
| NG_008020.1:g.224045A>G | |
| NG_008020.2:g.224045A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646519.1:c.*779A>G | ENSP00000496517.1:n.*779A>G | |
| ENST00000647337.2:c.*56A>G MANE Select | ENSP00000495497.1:n.*56A>G | |
| ENST00000359524.7:c.*56A>G | ENSP00000352514.5:n.*56A>G | |
| ENST00000371432.7:c.*56A>G | ENSP00000360486.4:n.*56A>G | |
| ENST00000371436.10:c.1556A>G | ENSP00000360491.6:n.1556A>G | |
| ENST00000371438.5:c.*56A>G | ENSP00000360493.1:n.*56A>G | |
| ENST00000478660.6:c.*178+33708A>G | ENSP00000460188.1:n.*178+33708A>G | |
| ENST00000576263.5:c.1021+34954A>G | ENSP00000458178.1:n.1021+34954A>G | |
| NM_001015051.3:c.*56A>G | NP_001015051.3:n.*56A>G | |
| NM_001024630.3:c.*56A>G | NP_001019801.3:n.*56A>G | |
| NM_001278478.1:c.1514A>G | NP_001265407.1:n.1514A>G | |
| XM_006715232.1:c.*56A>G | XP_006715295.1:n.*56A>G | |
| XM_011514960.1:c.1225+34954A>G | XP_011513262.1:n.1225+34954A>G | |
| XM_011514961.1:c.*56A>G | XP_011513263.1:n.*56A>G | |
| XM_011514962.1:c.*56A>G | XP_011513264.1:n.*56A>G | |
| XM_011514963.1:c.1051+34954A>G | XP_011513265.1:n.1051+34954A>G | |
| XM_011514964.1:c.1435+391A>G | XP_011513266.1:n.1435+391A>G | |
| XM_011514966.1:c.553+34954A>G | XP_011513268.1:n.553+34954A>G | |
| NM_001024630.4:c.*56A>G MANE Select | NP_001019801.3:n.*56A>G | |
| NM_001278478.2:c.*56A>G | NP_001265407.1:n.*56A>G | |
| NM_001369405.1:c.*56A>G | NP_001356334.1:n.*56A>G | |
| NM_001015051.4:c.*56A>G | NP_001015051.3:n.*56A>G |