Linked Data
ClinVar Variation Id:
386351
dbSNP Id:
rs782220140
ExAC:
11:111904142 C / T
gnomAD v2:
11-111904142-C-T
gnomAD v3:
11-112033418-C-T
gnomAD v4:
11-112033418-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112033418C>T , CM000673.2:g.112033418C>T | GRCh38 |
| NC_000011.9:g.111904142C>T , CM000673.1:g.111904142C>T | GRCh37 |
| NC_000011.8:g.111409352C>T | NCBI36 |
| NG_013342.1:g.13605C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713569.1:c.675C>T | ENSP00000518862.1:p.Ala225= | |
| ENST00000280346.11:c.675C>T MANE Select | ENSP00000280346.7:p.Ala225= | |
| ENST00000527231.2:n.722C>T | ||
| ENST00000531306.2:c.365-71C>T | ENSP00000433432.2:n.365-71C>T | |
| ENST00000679368.1:c.675C>T | ENSP00000505314.1:p.Ala225= | |
| ENST00000679466.1:n.722C>T | ||
| ENST00000679614.1:c.72C>T | ENSP00000506007.1:p.Ala24= | |
| ENST00000679815.1:c.*28C>T | ENSP00000504880.1:n.*28C>T | |
| ENST00000679829.1:n.722C>T | ||
| ENST00000679878.1:c.642C>T | ENSP00000505567.1:p.Ala214= | |
| ENST00000680010.1:c.661-3855C>T | ENSP00000505768.1:n.661-3855C>T | |
| ENST00000680331.1:c.396C>T | ENSP00000506707.1:p.Ala132= | |
| ENST00000680411.1:c.420C>T | ENSP00000505915.1:p.Ala140= | |
| ENST00000681316.1:c.675C>T | ENSP00000506560.1:p.Ala225= | |
| ENST00000681328.1:c.675C>T | ENSP00000506355.1:p.Ala225= | |
| ENST00000681339.1:c.675C>T | ENSP00000506167.1:p.Ala225= | |
| ENST00000681638.1:c.*28C>T | ENSP00000506090.1:n.*28C>T | |
| ENST00000280346.10:c.675C>T | ENSP00000280346.6:p.Ala225= | |
| ENST00000393051.5:c.660+4473C>T | ENSP00000376771.1:n.660+4473C>T | |
| ENST00000531306.1:c.242-71C>T | ENSP00000433432.1:n.242-71C>T | |
| ENST00000533297.1:c.*350C>T | ENSP00000435374.1:n.*350C>T | |
| NM_001931.4:c.675C>T | NP_001922.2:p.Ala225= | |
| XM_011542647.1:c.675C>T | XP_011540949.1:p.Ala225= | |
| XM_011542647.3:c.675C>T | XP_011540949.1:p.Ala225= | |
| NM_001372031.1:c.675C>T | NP_001358960.1:p.Ala225= | |
| NM_001372032.1:c.675C>T | NP_001358961.1:p.Ala225= | |
| NM_001372033.1:c.675C>T | NP_001358962.1:p.Ala225= | |
| NM_001372034.1:c.642C>T | NP_001358963.1:p.Ala214= | |
| NM_001372035.1:c.675C>T | NP_001358964.1:p.Ala225= | |
| NM_001372036.1:c.549C>T | NP_001358965.1:p.Ala183= | |
| NM_001372037.1:c.507C>T | NP_001358966.1:p.Ala169= | |
| NM_001372038.1:c.396C>T | NP_001358967.1:p.Ala132= | |
| NM_001372039.1:c.660+4473C>T | NP_001358968.1:n.660+4473C>T | |
| NM_001372040.1:c.365-71C>T | NP_001358969.1:n.365-71C>T | |
| NM_001372041.1:c.660+4473C>T | NP_001358970.1:n.660+4473C>T | |
| NM_001372042.1:c.213C>T | NP_001358971.1:p.Ala71= | |
| NM_001931.5:c.675C>T MANE Select | NP_001922.2:p.Ala225= | |
| NR_164072.1:n.740C>T |