Linked Data
ClinVar Variation Id:
342780
dbSNP Id:
rs886057828
gnomAD v2:
3-121518095-A-G
gnomAD v3:
3-121799248-A-G
gnomAD v4:
3-121799248-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.121799248A>G , CM000665.2:g.121799248A>G | GRCh38 |
| NC_000003.11:g.121518095A>G , CM000665.1:g.121518095A>G | GRCh37 |
| NC_000003.10:g.123000785A>G | NCBI36 |
| NG_015887.1:g.40832T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310864.11:c.714T>C MANE Select | ENSP00000311505.6:p.Ala238= | |
| ENST00000310864.10:c.714T>C | ENSP00000311505.6:p.Ala238= | |
| ENST00000349820.10:c.587+8096T>C | ENSP00000323756.7:n.587+8096T>C | |
| ENST00000393650.7:c.714T>C | ENSP00000377261.3:p.Ala238= | |
| ENST00000460108.5:c.162T>C | ENSP00000419168.1:p.Ala54= | |
| ENST00000498104.1:c.162T>C | ENSP00000417832.1:p.Ala54= | |
| NM_001023570.2:c.714T>C | NP_001018864.2:p.Ala238= | |
| NM_001023571.2:c.587+8096T>C | NP_001018865.2:n.587+8096T>C | |
| XM_005247911.2:c.714T>C | XP_005247968.1:p.Ala238= | |
| XM_005247912.1:c.162T>C | XP_005247969.1:p.Ala54= | |
| XM_005247913.1:c.714T>C | XP_005247970.1:p.Ala238= | |
| XM_011513335.1:c.162T>C | XP_011511637.1:p.Ala54= | |
| XR_924221.1:n.841T>C | ||
| NM_001023570.3:c.714T>C | NP_001018864.2:p.Ala238= | |
| NM_001023571.3:c.587+8096T>C | NP_001018865.2:n.587+8096T>C | |
| NM_001319107.1:c.714T>C | NP_001306036.1:p.Ala238= | |
| NR_134968.1:n.928T>C | ||
| XM_005247911.4:c.714T>C | XP_005247968.1:p.Ala238= | |
| XM_005247912.3:c.162T>C | XP_005247969.1:p.Ala54= | |
| XM_011513335.3:c.162T>C | XP_011511637.1:p.Ala54= | |
| XM_017007537.2:c.162T>C | XP_016863026.1:p.Ala54= | |
| XM_017007539.2:c.587+8096T>C | XP_016863028.1:n.587+8096T>C | |
| XM_024453833.1:c.162T>C | XP_024309601.1:p.Ala54= | |
| XM_024453834.1:c.162T>C | XP_024309602.1:p.Ala54= | |
| XR_001740376.2:n.842T>C | ||
| XR_001740377.2:n.842T>C | ||
| XR_001740378.2:n.842T>C | ||
| XR_001740379.2:n.842T>C | ||
| XR_001740380.2:n.842T>C | ||
| XR_001740381.2:n.842T>C | ||
| NM_001023570.4:c.714T>C MANE Select | NP_001018864.2:p.Ala238= | |
| NM_001023571.4:c.587+8096T>C | NP_001018865.2:n.587+8096T>C | |
| NM_001319107.2:c.714T>C | NP_001306036.1:p.Ala238= | |
| NR_134968.2:n.909T>C |