Linked Data
ClinVar Variation Id:
1492082
dbSNP Id:
rs573439155
ExAC:
6:74310108 A / G
gnomAD v2:
6-74310108-A-G
gnomAD v3:
6-73600385-A-G
gnomAD v4:
6-73600385-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73600385A>G , CM000668.2:g.73600385A>G | GRCh38 |
| NC_000006.11:g.74310108A>G , CM000668.1:g.74310108A>G | GRCh37 |
| NC_000006.10:g.74366829A>G | NCBI36 |
| NG_008272.1:g.58630T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355773.6:c.1316T>C MANE Select | ENSP00000348019.5:p.Val439Ala | |
| ENST00000355773.5:c.1316T>C | ENSP00000348019.5:p.Val439Ala | |
| NM_012434.4:c.1316T>C | NP_036566.1:p.Val439Ala | |
| XM_005248710.2:c.1265T>C | XP_005248767.1:p.Val422Ala | |
| XM_005248711.1:c.1118T>C | XP_005248768.1:p.Val373Ala | |
| XM_011535750.1:c.1168T>C | XP_011534052.1:p.Leu390= | |
| NM_012434.5:c.1316T>C MANE Select | NP_036566.1:p.Val439Ala | |
| NM_001382629.1:c.1085T>C | NP_001369558.1:p.Val362Ala | |
| NM_001382630.1:c.1260-5171T>C | NP_001369559.1:n.1260-5171T>C | |
| NM_001382631.1:c.1337T>C | NP_001369560.1:p.Val446Ala | |
| NM_001382632.1:c.1229T>C | NP_001369561.1:p.Val410Ala | |
| NM_001382633.1:c.1316T>C | NP_001369562.1:p.Val439Ala | |
| NM_001382634.1:c.1157T>C | NP_001369563.1:p.Val386Ala | |
| NM_001382635.1:c.1313T>C | NP_001369564.1:p.Val438Ala | |
| NM_001382636.1:c.998T>C | NP_001369565.1:p.Val333Ala |