Linked Data
ClinVar Variation Id:
1605254
ClinVar RCV Id:
RCV002135045
dbSNP Id:
rs1475561276
gnomAD v2:
6-74310140-G-A
gnomAD v3:
6-73600417-G-A
gnomAD v4:
6-73600417-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73600417G>A , CM000668.2:g.73600417G>A | GRCh38 |
| NC_000006.11:g.74310140G>A , CM000668.1:g.74310140G>A | GRCh37 |
| NC_000006.10:g.74366861G>A | NCBI36 |
| NG_008272.1:g.58598C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355773.6:c.1284C>T MANE Select | ENSP00000348019.5:p.Ile428= | |
| ENST00000355773.5:c.1284C>T | ENSP00000348019.5:p.Ile428= | |
| NM_012434.4:c.1284C>T | NP_036566.1:p.Ile428= | |
| XM_005248710.2:c.1233C>T | XP_005248767.1:p.Ile411= | |
| XM_005248711.1:c.1086C>T | XP_005248768.1:p.Ile362= | |
| XM_011535750.1:c.1136C>T | XP_011534052.1:p.Ser379Leu | |
| NM_012434.5:c.1284C>T MANE Select | NP_036566.1:p.Ile428= | |
| NM_001382629.1:c.1053C>T | NP_001369558.1:p.Ile351= | |
| NM_001382630.1:c.1260-5203C>T | NP_001369559.1:n.1260-5203C>T | |
| NM_001382631.1:c.1305C>T | NP_001369560.1:p.Ile435= | |
| NM_001382632.1:c.1197C>T | NP_001369561.1:p.Ile399= | |
| NM_001382633.1:c.1284C>T | NP_001369562.1:p.Ile428= | |
| NM_001382634.1:c.1125C>T | NP_001369563.1:p.Ile375= | |
| NM_001382635.1:c.1281C>T | NP_001369564.1:p.Ile427= | |
| NM_001382636.1:c.966C>T | NP_001369565.1:p.Ile322= |