Linked Data
ClinVar Variation Id:
1964954
ClinVar RCV Id:
RCV002726444
dbSNP Id:
rs758790721
ExAC:
7:81392173 C / A
gnomAD v2:
7-81392173-C-A
gnomAD v3:
7-81762857-C-A
gnomAD v4:
7-81762857-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.81762857C>A , CM000669.2:g.81762857C>A | GRCh38 |
| NC_000007.13:g.81392173C>A , CM000669.1:g.81392173C>A | GRCh37 |
| NC_000007.12:g.81230109C>A | NCBI36 |
| NG_016274.1:g.12280G>T | |
| NG_016274.2:g.12280G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222390.11:c.104G>T MANE Select | ENSP00000222390.5:p.Arg35Ile | |
| ENST00000423064.7:c.104G>T | ENSP00000413829.2:p.Arg35Ile | |
| ENST00000444829.7:c.104G>T | ENSP00000389854.2:p.Arg35Ile | |
| ENST00000453411.6:c.104G>T | ENSP00000408270.1:p.Arg35Ile | |
| ENST00000457544.7:c.104G>T | ENSP00000391238.2:p.Arg35Ile | |
| ENST00000465234.2:c.104G>T | ENSP00000494355.1:p.Arg35Ile | |
| ENST00000643024.1:c.104G>T | ENSP00000496217.1:p.Arg35Ile | |
| ENST00000222390.9:c.104G>T | ENSP00000222390.5:p.Arg35Ile | |
| ENST00000354224.10:c.104G>T | ENSP00000346164.6:p.Arg35Ile | |
| ENST00000412881.5:c.104G>T | ENSP00000396307.1:p.Arg35Ile | |
| ENST00000421558.1:c.104G>T | ENSP00000388592.1:p.Arg35Ile | |
| ENST00000423064.6:c.104G>T | ENSP00000413829.2:p.Arg35Ile | |
| ENST00000444829.6:c.104G>T | ENSP00000389854.2:p.Arg35Ile | |
| ENST00000453018.1:c.-206G>T | ENSP00000395468.1:n.-206G>T | |
| ENST00000453411.5:c.104G>T | ENSP00000408270.1:p.Arg35Ile | |
| ENST00000457544.6:c.104G>T | ENSP00000391238.2:p.Arg35Ile | |
| ENST00000465234.1:n.132G>T | ||
| NM_000601.4:c.104G>T | NP_000592.3:p.Arg35Ile | |
| NM_001010931.1:c.104G>T | NP_001010931.1:p.Arg35Ile | |
| NM_001010931.2:c.104G>T | NP_001010931.1:p.Arg35Ile | |
| NM_001010932.1:c.104G>T | NP_001010932.1:p.Arg35Ile | |
| NM_001010933.1:c.104G>T | NP_001010933.1:p.Arg35Ile | |
| NM_001010933.2:c.104G>T | NP_001010933.1:p.Arg35Ile | |
| NM_001010934.1:c.104G>T | NP_001010934.1:p.Arg35Ile | |
| NM_001010934.2:c.104G>T | NP_001010934.1:p.Arg35Ile | |
| XM_006715956.2:c.104G>T | XP_006716019.1:p.Arg35Ile | |
| XM_011516115.1:c.104G>T | XP_011514417.1:p.Arg35Ile | |
| NM_000601.5:c.104G>T | NP_000592.3:p.Arg35Ile | |
| NM_001010932.2:c.104G>T | NP_001010932.1:p.Arg35Ile | |
| XM_011516115.2:c.104G>T | XP_011514417.1:p.Arg35Ile | |
| XM_017012097.1:c.104G>T | XP_016867586.1:p.Arg35Ile | |
| XM_017012098.1:c.104G>T | XP_016867587.1:p.Arg35Ile | |
| NM_000601.6:c.104G>T MANE Select | NP_000592.3:p.Arg35Ile | |
| NM_001010931.3:c.104G>T | NP_001010931.1:p.Arg35Ile | |
| NM_001010932.3:c.104G>T | NP_001010932.1:p.Arg35Ile | |
| NM_001010933.3:c.104G>T | NP_001010933.1:p.Arg35Ile | |
| NM_001010934.3:c.104G>T | NP_001010934.1:p.Arg35Ile |