Linked Data
ClinVar Variation Id:
342773
dbSNP Id:
rs886057824
gnomAD v2:
3-121500656-T-C
gnomAD v4:
3-121781809-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.121781809T>C , CM000665.2:g.121781809T>C | GRCh38 |
| NC_000003.11:g.121500656T>C , CM000665.1:g.121500656T>C | GRCh37 |
| NC_000003.10:g.122983346T>C | NCBI36 |
| NG_015887.1:g.58271A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310864.11:c.1344A>G MANE Select | ENSP00000311505.6:p.Gln448= | |
| ENST00000310864.10:c.1344A>G | ENSP00000311505.6:p.Gln448= | |
| ENST00000349820.10:c.945A>G | ENSP00000323756.7:p.Gln315= | |
| ENST00000393650.7:c.*322A>G | ENSP00000377261.3:n.*322A>G | |
| NM_001023570.2:c.1344A>G | NP_001018864.2:p.Gln448= | |
| NM_001023571.2:c.945A>G | NP_001018865.2:p.Gln315= | |
| XM_005247911.2:c.1344A>G | XP_005247968.1:p.Gln448= | |
| XM_005247912.1:c.792A>G | XP_005247969.1:p.Gln264= | |
| XM_005247913.1:c.*58A>G | XP_005247970.1:n.*58A>G | |
| XM_011513335.1:c.792A>G | XP_011511637.1:p.Gln264= | |
| XR_924221.1:n.1361A>G | ||
| NM_001023570.3:c.1344A>G | NP_001018864.2:p.Gln448= | |
| NM_001023571.3:c.945A>G | NP_001018865.2:p.Gln315= | |
| NM_001319107.1:c.1344A>G | NP_001306036.1:p.Gln448= | |
| NR_134968.1:n.1448A>G | ||
| XM_005247911.4:c.1344A>G | XP_005247968.1:p.Gln448= | |
| XM_005247912.3:c.792A>G | XP_005247969.1:p.Gln264= | |
| XM_011513335.3:c.792A>G | XP_011511637.1:p.Gln264= | |
| XM_017007537.2:c.792A>G | XP_016863026.1:p.Gln264= | |
| XM_017007539.2:c.945A>G | XP_016863028.1:p.Gln315= | |
| XM_024453833.1:c.792A>G | XP_024309601.1:p.Gln264= | |
| XM_024453834.1:c.792A>G | XP_024309602.1:p.Gln264= | |
| XR_001740376.2:n.1323A>G | ||
| XR_001740377.2:n.1323A>G | ||
| XR_001740378.2:n.1362A>G | ||
| XR_001740379.2:n.1213A>G | ||
| XR_001740380.2:n.1362A>G | ||
| XR_001740381.2:n.1213A>G | ||
| NM_001023570.4:c.1344A>G MANE Select | NP_001018864.2:p.Gln448= | |
| NM_001023571.4:c.945A>G | NP_001018865.2:p.Gln315= | |
| NM_001319107.2:c.1344A>G | NP_001306036.1:p.Gln448= | |
| NR_134968.2:n.1429A>G |