Linked Data
ClinVar Variation Id:
134266
dbSNP Id:
rs587778318
gnomAD v3:
16-89746675-G-T
gnomAD v4:
16-89746675-G-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89746675G>T , CM000678.2:g.89746675G>T | GRCh38 |
| NC_000016.9:g.89813083G>T , CM000678.1:g.89813083G>T | GRCh37 |
| NC_000016.8:g.88340584G>T | NCBI36 |
| NG_011706.1:g.74983C>A , LRG_495:g.74983C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561667.2:c.*1900C>A | ENSP00000512522.1:n.*1900C>A | |
| ENST00000564475.6:c.3422C>A | ENSP00000454977.2:p.Ala1141Asp | |
| ENST00000567510.2:c.1992C>A | ENSP00000455969.1:n.1992C>A | |
| ENST00000568369.6:c.3422C>A | ENSP00000456829.1:p.Ala1141Asp | |
| ENST00000568983.6:n.441C>A | ||
| ENST00000696274.1:n.3383C>A | ||
| ENST00000696275.1:c.*2657C>A | ENSP00000512517.1:n.*2657C>A | |
| ENST00000696286.1:c.3422C>A | ENSP00000512523.1:p.Ala1141Asp | |
| ENST00000696287.1:c.3293C>A | ENSP00000512524.1:p.Ala1098Asp | |
| ENST00000696291.1:c.*2854C>A | ENSP00000512530.1:n.*2854C>A | |
| ENST00000389301.8:c.3422C>A MANE Select | ENSP00000373952.3:p.Ala1141Asp | |
| ENST00000305699.15:n.665C>A | ||
| ENST00000389301.7:c.3422C>A | ENSP00000373952.3:p.Ala1141Asp | |
| ENST00000561660.1:c.626C>A | ||
| ENST00000567988.5:c.674C>A | ||
| ENST00000568369.5:c.3422C>A | ENSP00000456829.1:p.Ala1141Asp | |
| ENST00000568626.1:c.270C>A | ||
| ENST00000568983.5:n.250C>A | ||
| NM_000135.2:c.3422C>A , LRG_495t1:c.3422C>A | NP_000126.2:p.Ala1141Asp | |
| NM_001286167.1:c.3422C>A | NP_001273096.1:p.Ala1141Asp | |
| XM_005256294.3:c.3422C>A | XP_005256351.1:p.Ala1141Asp | |
| XM_011522945.1:c.3293C>A | XP_011521247.1:p.Ala1098Asp | |
| XM_011522946.1:c.2399C>A | XP_011521248.1:p.Ala800Asp | |
| XM_011522947.1:c.2399C>A | XP_011521249.1:p.Ala800Asp | |
| XR_933244.1:n.3465C>A | ||
| XR_933245.1:n.3465C>A | ||
| XR_933246.1:n.3292C>A | ||
| NM_000135.3:c.3422C>A | NP_000126.2:p.Ala1141Asp | |
| NM_001286167.2:c.3422C>A | NP_001273096.1:p.Ala1141Asp | |
| XM_005256294.4:c.3422C>A | XP_005256351.1:p.Ala1141Asp | |
| XM_011522945.2:c.3293C>A | XP_011521247.1:p.Ala1098Asp | |
| XM_011522946.3:c.2399C>A | XP_011521248.1:p.Ala800Asp | |
| XM_011522947.2:c.2399C>A | XP_011521249.1:p.Ala800Asp | |
| XM_017023044.2:c.3293C>A | XP_016878533.1:p.Ala1098Asp | |
| XM_024450189.1:c.2399C>A | XP_024305957.1:p.Ala800Asp | |
| XR_001751866.1:n.3292C>A | ||
| XR_933244.2:n.3465C>A | ||
| XR_933245.2:n.3465C>A | ||
| NM_000135.4:c.3422C>A MANE Select | NP_000126.2:p.Ala1141Asp | |
| NM_001286167.3:c.3422C>A | NP_001273096.1:p.Ala1141Asp |