Linked Data
ClinVar Variation Id:
513730
dbSNP Id:
rs782157762
ExAC:
11:111909973 C / T
gnomAD v2:
11-111909973-C-T
gnomAD v3:
11-112039249-C-T
gnomAD v4:
11-112039249-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112039249C>T , CM000673.2:g.112039249C>T | GRCh38 |
| NC_000011.9:g.111909973C>T , CM000673.1:g.111909973C>T | GRCh37 |
| NC_000011.8:g.111415183C>T | NCBI36 |
| NG_013342.1:g.19436C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713569.1:c.981C>T | ENSP00000518862.1:p.Ala327= | |
| ENST00000280346.11:c.981C>T MANE Select | ENSP00000280346.7:p.Ala327= | |
| ENST00000527231.2:n.1028C>T | ||
| ENST00000531306.2:c.600C>T | ENSP00000433432.2:p.Ala200= | |
| ENST00000679368.1:c.793C>T | ENSP00000505314.1:p.Arg265Cys | |
| ENST00000679466.1:n.1028C>T | ||
| ENST00000679614.1:c.378C>T | ENSP00000506007.1:p.Ala126= | |
| ENST00000679815.1:c.*414C>T | ENSP00000504880.1:n.*414C>T | |
| ENST00000679829.1:n.1108C>T | ||
| ENST00000679878.1:c.948C>T | ENSP00000505567.1:p.Ala316= | |
| ENST00000680010.1:c.*122C>T | ENSP00000505768.1:n.*122C>T | |
| ENST00000680331.1:c.702C>T | ENSP00000506707.1:p.Ala234= | |
| ENST00000680411.1:c.726C>T | ENSP00000505915.1:p.Ala242= | |
| ENST00000681316.1:c.981C>T | ENSP00000506560.1:p.Ala327= | |
| ENST00000681328.1:c.981C>T | ENSP00000506355.1:p.Ala327= | |
| ENST00000681339.1:c.981C>T | ENSP00000506167.1:p.Ala327= | |
| ENST00000681638.1:c.*334C>T | ENSP00000506090.1:n.*334C>T | |
| ENST00000280346.10:c.981C>T | ENSP00000280346.6:p.Ala327= | |
| ENST00000393051.5:c.666C>T | ENSP00000376771.1:p.Ala222= | |
| ENST00000531306.1:c.477C>T | ENSP00000433432.1:p.Ala159= | |
| ENST00000533297.1:c.*656C>T | ENSP00000435374.1:n.*656C>T | |
| NM_001931.4:c.981C>T | NP_001922.2:p.Ala327= | |
| XM_011542647.1:c.981C>T | XP_011540949.1:p.Ala327= | |
| XM_011542647.3:c.981C>T | XP_011540949.1:p.Ala327= | |
| NM_001372031.1:c.981C>T | NP_001358960.1:p.Ala327= | |
| NM_001372032.1:c.981C>T | NP_001358961.1:p.Ala327= | |
| NM_001372033.1:c.981C>T | NP_001358962.1:p.Ala327= | |
| NM_001372034.1:c.948C>T | NP_001358963.1:p.Ala316= | |
| NM_001372035.1:c.981C>T | NP_001358964.1:p.Ala327= | |
| NM_001372036.1:c.855C>T | NP_001358965.1:p.Ala285= | |
| NM_001372037.1:c.813C>T | NP_001358966.1:p.Ala271= | |
| NM_001372038.1:c.702C>T | NP_001358967.1:p.Ala234= | |
| NM_001372039.1:c.666C>T | NP_001358968.1:p.Ala222= | |
| NM_001372040.1:c.600C>T | NP_001358969.1:p.Ala200= | |
| NM_001372041.1:c.666C>T | NP_001358970.1:p.Ala222= | |
| NM_001372042.1:c.519C>T | NP_001358971.1:p.Ala173= | |
| NM_001931.5:c.981C>T MANE Select | NP_001922.2:p.Ala327= | |
| NR_164072.1:n.858C>T |